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Genetics Home Reference: your guide to understanding genetic conditions     A service of the U.S. National Library of Medicine®

Chromosome 1

Reviewed November 2014

What is chromosome 1?

Humans normally have 46 chromosomes in each cell, divided into 23 pairs. Two copies of chromosome 1, one copy inherited from each parent, form one of the pairs. Chromosome 1 is the largest human chromosome, spanning about 249 million DNA building blocks (base pairs) and representing approximately 8 percent of the total DNA in cells.

Identifying genes on each chromosome is an active area of genetic research. Because researchers use different approaches to predict the number of genes on each chromosome, the estimated number of genes varies. Chromosome 1 likely contains 2,000 to 2,100 genes that provide instructions for making proteins. These proteins perform a variety of different roles in the body.

Genes on chromosome 1 are among the estimated 20,000 to 25,000 total genes in the human genome.

Genetics Home Reference provides information about the following genes on chromosome 1:

  • ABCA4
  • ACTA1
  • AGL
  • AGT
  • ALDH4A1
  • ALG6
  • ALPL
  • ALX3
  • AMPD1
  • ARID1A
  • ASPM
  • ATP1A2
  • BSND
  • C8A
  • C8B
  • CASQ2
  • CDC73
  • CFH
  • CFHR5
  • CHRNB2
  • COL8A2
  • COL9A2
  • COL11A1
  • CPT2
  • CRB1
  • DARS2
  • DBT
  • DHCR24
  • DPYD
  • DVL1
  • EGLN1
  • EIF2B3
  • F5
  • F13B
  • FH
  • FLG
  • FMO3
  • FUCA1
  • GALE
  • GBA
  • GJB3
  • GJB4
  • GNAI3
  • GNAT2
  • HAX1
  • HFE2
  • HSD3B2
  • IL23R
  • IRF6
  • KCNQ4
  • KIF1B
  • LAMB3
  • LAMC2
  • LBR
  • LEPR
  • LMNA
  • LOR
  • LYST
  • MFN2
  • MPL
  • MPZ
  • MTR
  • MUC1
  • MYOC
  • NCF2
  • NGF
  • NLRP3
  • NOTCH2
  • NRAS
  • NTRK1
  • ORC1
  • P3H1
  • PARK7
  • PCSK9
  • PIGV
  • PIK3CD
  • PINK1
  • PKLR
  • PLOD1
  • PPOX
  • PPT1
  • PSEN2
  • PTPN22
  • RBM8A
  • REN
  • RPE65
  • RPL5
  • RPL11
  • RYR2
  • SDHB
  • SDHC
  • SEPN1
  • SKI
  • SLC2A1
  • SLC19A2
  • SLC30A10
  • TGFB2
  • TNNT2
  • TPM3
  • TSHB
  • UROD
  • USH2A
  • WNT4
  • YARS
  • ZMPSTE24

How are changes in chromosome 1 related to health conditions?

Many genetic conditions are related to changes in particular genes on chromosome 1. This list of disorders associated with genes on chromosome 1 provides links to additional information.

Genetics Home Reference provides information about the following conditions related to genes on chromosome 1:

  • 3-beta-hydroxysteroid dehydrogenase deficiency
  • 3-hydroxy-3-methylglutaryl-CoA lyase deficiency
  • achromatopsia
  • actin-accumulation myopathy
  • activated PI3K-delta syndrome
  • adenosine monophosphate deaminase deficiency
  • age-related macular degeneration
  • Alagille syndrome
  • ALG6-congenital disorder of glycosylation
  • alternating hemiplegia of childhood
  • Alzheimer disease
  • amelogenesis imperfecta
  • amyotrophic lateral sclerosis
  • anencephaly
  • ankylosing spondylitis
  • arrhythmogenic right ventricular cardiomyopathy
  • atopic dermatitis
  • atypical hemolytic-uremic syndrome
  • auriculo-condylar syndrome
  • autoimmune Addison disease
  • autoimmune lymphoproliferative syndrome
  • autosomal dominant nocturnal frontal lobe epilepsy
  • autosomal recessive primary microcephaly
  • Bartter syndrome
  • C3 glomerulopathy
  • cap myopathy
  • carnitine palmitoyltransferase II deficiency
  • catecholaminergic polymorphic ventricular tachycardia
  • Charcot-Marie-Tooth disease
  • Chediak-Higashi syndrome
  • chronic granulomatous disease
  • Coffin-Siris syndrome
  • complement component 8 deficiency
  • congenital fiber-type disproportion
  • congenital hypothyroidism
  • congenital insensitivity to pain with anhidrosis
  • core binding factor acute myeloid leukemia
  • Cowden syndrome
  • Crohn disease
  • cytogenetically normal acute myeloid leukemia
  • desmosterolosis
  • Diamond-Blackfan anemia
  • dihydropyrimidine dehydrogenase deficiency
  • early-onset glaucoma
  • Ehlers-Danlos syndrome
  • Emery-Dreifuss muscular dystrophy
  • erythrokeratodermia variabilis et progressiva
  • essential thrombocythemia
  • factor V deficiency
  • factor V Leiden thrombophilia
  • factor XIII deficiency
  • familial adenomatous polyposis
  • familial cold autoinflammatory syndrome
  • familial dilated cardiomyopathy
  • familial erythrocytosis
  • familial hemiplegic migraine
  • familial hypertrophic cardiomyopathy
  • familial hypobetalipoproteinemia
  • familial isolated hyperparathyroidism
  • familial restrictive cardiomyopathy
  • frontonasal dysplasia
  • Fuchs endothelial dystrophy
  • fucosidosis
  • fumarase deficiency
  • galactosemia
  • gastrointestinal stromal tumor
  • Gaucher disease
  • giant congenital melanocytic nevus
  • Gitelman syndrome
  • GLUT1 deficiency syndrome
  • glycogen storage disease type III
  • Graves disease
  • Greenberg dysplasia
  • Hajdu-Cheney syndrome
  • hereditary antithrombin deficiency
  • hereditary hemochromatosis
  • hereditary leiomyomatosis and renal cell cancer
  • hereditary paraganglioma-pheochromocytoma
  • hereditary sensory and autonomic neuropathy type V
  • hidradenitis suppurativa
  • homocystinuria
  • Hutchinson-Gilford progeria syndrome
  • hypercholesterolemia
  • hypermanganesemia with dystonia, polycythemia, and cirrhosis
  • hyperparathyroidism-jaw tumor syndrome
  • hyperprolinemia
  • hypohidrotic ectodermal dysplasia
  • hypokalemic periodic paralysis
  • hypophosphatasia
  • idiopathic inflammatory myopathy
  • infantile neuronal ceroid lipofuscinosis
  • intranuclear rod myopathy
  • isolated ectopia lentis
  • junctional epidermolysis bullosa
  • juvenile Batten disease
  • juvenile idiopathic arthritis
  • Kufs disease
  • late-infantile neuronal ceroid lipofuscinosis
  • Leber congenital amaurosis
  • leptin receptor deficiency
  • leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation
  • leukoencephalopathy with vanishing white matter
  • limb-girdle muscular dystrophy
  • Loeys-Dietz syndrome
  • lung cancer
  • Mabry syndrome
  • malignant hyperthermia
  • mandibuloacral dysplasia
  • maple syrup urine disease
  • medium-chain acyl-CoA dehydrogenase deficiency
  • medullary cystic kidney disease type 1
  • Meier-Gorlin syndrome
  • Muckle-Wells syndrome
  • Müllerian aplasia and hyperandrogenism
  • multiminicore disease
  • multiple epiphyseal dysplasia
  • nemaline myopathy
  • neonatal onset multisystem inflammatory disease
  • neuroblastoma
  • nonsyndromic hearing loss
  • nonsyndromic paraganglioma
  • Noonan syndrome
  • osteogenesis imperfecta
  • Parkinson disease
  • phosphoglycerate dehydrogenase deficiency
  • popliteal pterygium syndrome
  • porphyria
  • primary macronodular adrenal hyperplasia
  • primary myelofibrosis
  • psoriatic arthritis
  • pyruvate kinase deficiency
  • renal tubular dysgenesis
  • REN-related kidney disease
  • retinitis pigmentosa
  • rheumatoid arthritis
  • rhizomelic chondrodysplasia punctata
  • Robinow syndrome
  • severe congenital neutropenia
  • Shprintzen-Goldberg syndrome
  • spina bifida
  • sporadic hemiplegic migraine
  • Stargardt macular degeneration
  • Stickler syndrome
  • systemic lupus erythematosus
  • systemic scleroderma
  • thiamine-responsive megaloblastic anemia syndrome
  • thrombocytopenia-absent radius syndrome
  • trimethylaminuria
  • type 1 diabetes
  • ulcerative colitis
  • Usher syndrome
  • van der Woude syndrome
  • vitiligo
  • Vohwinkel syndrome

Changes in the structure or number of copies of a chromosome can also cause problems with health and development. The following chromosomal conditions are associated with such changes in chromosome 1.

1p36 deletion syndrome

1p36 deletion syndrome is caused by a deletion of genetic material from a specific region in the short (p) arm of chromosome 1. The signs and symptoms of this disorder, which include intellectual disability, distinctive facial features, and structural abnormalities in several body systems, are probably related to the loss of multiple genes in this region. The size of the deletion varies among affected individuals.

1q21.1 microdeletion

1q21.1 microdeletion is a chromosomal change in which a small piece of the long (q) arm of chromosome 1 is deleted in each cell. Most commonly, affected individuals are missing about 1.35 million DNA building blocks (base pairs), also written as 1.35 megabases (Mb), in the q21.1 region. However, the exact size of the deleted region varies. The loss of multiple genes from this region probably contributes to the various signs and symptoms that can be associated with a 1q21.1 microdeletion. Related features can include delayed development, intellectual disability, physical abnormalities, and neurological and psychiatric problems; however, some individuals with a 1q21.1 microdeletion have no obvious signs or symptoms.

1q21.1 microduplication

A 1q21.1 microduplication is a copied (duplicated) segment of genetic material at position q21.1 on one of the two copies of chromosome 1 in each cell. Some people with a 1q21.1 microduplication have developmental delay, intellectual disability, or features of autism spectrum disorders characterized by impaired communication and socialization skills. Affected individuals may also have psychiatric disorders such as schizophrenia, malformations of the heart, or other neurological or physical features. Other individuals with 1q21.1 microduplications have no identified physical, intellectual, or behavioral problems.

1q21.1 microduplications most often involve the same segment of about 1.35 million base pairs that is missing in 1q21.1 microdeletions (described above). In other cases, individuals have a shorter or longer duplicated segment within the q21.1 region of chromosome 1. Extra copies of genes in the duplicated segment likely contribute to the signs and symptoms that occur in some individuals with 1q21.1 microduplications; researchers are working to determine which specific genes are involved and how they relate to these features. Because some people with a 1q21.1 microduplication have no apparent features of the condition, additional genetic or environmental factors are thought to be involved in the development of signs and symptoms.


Deletions within region 1p36 have also been associated with another condition called neuroblastoma. Neuroblastoma is a type of cancerous tumor composed of immature nerve cells (neuroblasts). These deletions are somatic mutations, which means they occur during a person's lifetime and are present only in the cells that become cancerous. About 25 percent of people with neuroblastoma have a deletion of 1p36.1-1p36.3, which is associated with a more severe form of neuroblastoma. Researchers believe the deleted region could contain a gene that keeps cells from growing and dividing too quickly or in an uncontrolled way, called a tumor suppressor gene. When tumor suppressor genes are deleted, cancer can occur. Researchers have identified several possible tumor suppressor genes in the deleted region of chromosome 1, and more research is needed to understand what role these genes play in neuroblastoma development.

thrombocytopenia-absent radius syndrome

A deletion in the 1q21.1 region of chromosome 1 is involved in most cases of thrombocytopenia-absent radius (TAR) syndrome. TAR syndrome is characterized by the absence of a bone called the radius in each forearm and a shortage (deficiency) of blood cells involved in clotting (platelets).

The deletion in chromosome 1 involved in TAR syndrome eliminates at least 200,000 DNA building blocks (200 kilobases, or 200 kb) from the long (q) arm of the chromosome, including a gene called RBM8A. Most people with TAR syndrome have the deletion in one copy of chromosome 1, which removes one copy of the RBM8A gene, and a mutation in the other copy of the RBM8A gene in each cell. The RBM8A gene provides instructions for making a protein called RNA-binding motif protein 8A. This protein is believed to be involved in a number of important cellular functions involving the production of other proteins.

RBM8A gene mutations that cause TAR syndrome reduce the amount of RNA-binding motif protein 8A in cells. The deletion on chromosome 1 eliminates one copy of the RBM8A gene in each cell and the RNA-binding motif protein 8A that would have been produced from it. The reduced total amount of RNA-binding motif protein 8A is thought to cause problems in the development of certain tissues, but it is unknown how it causes the specific signs and symptoms of TAR syndrome. No cases have been reported in which individuals have deletions on both copies of chromosome 1 that include both copies of the RBM8A gene; studies indicate that the complete loss of RNA-binding motif protein 8A is not compatible with life.

Researchers sometimes refer to the deletion in chromosome 1 associated with TAR syndrome as the 200-kb deletion to distinguish it from another chromosomal abnormality called a 1q21.1 microdeletion (described above). People with a 1q21.1 microdeletion are missing a different, larger DNA segment in the chromosome 1q21.1 region near the area where the 200-kb deletion occurs. The chromosomal change related to 1q21.1 microdeletion is often called the recurrent distal 1.35-Mb deletion.

other cancers

Changes in the structure of chromosome 1 are associated with other forms of cancer and conditions related to cancer. These changes are typically somatic, which means they are acquired during a person's lifetime and are present only in tumor cells.

Deletions in the short (p) arm of the chromosome have been identified in tumors of the brain and kidney. Duplications in the long (q) arm of the chromosome have been reported in a disorder called myelodysplastic syndrome, which is a disease of the blood and bone marrow. People with this condition have a low number of red blood cells (anemia) and an increased risk of developing leukemia.

other chromosomal conditions

Other changes in the number or structure of chromosome 1 can have a variety of effects, including delayed growth and development, distinctive facial features, birth defects, and other health problems. Changes to chromosome 1 may include an extra segment of the short (p) or long (q) arm of the chromosome in each cell (partial trisomy 1p or 1q), a missing segment of the short or long arm of the chromosome in each cell (partial monosomy 1p or 1q), or a circular structure called ring chromosome 1. Ring chromosomes occur when a chromosome breaks in two places and the ends of the chromosome arms fuse together to form a circular structure.

Is there a standard way to diagram chromosome 1?

Geneticists use diagrams called ideograms as a standard representation for chromosomes. Ideograms show a chromosome's relative size and its banding pattern. A banding pattern is the characteristic pattern of dark and light bands that appears when a chromosome is stained with a chemical solution and then viewed under a microscope. These bands are used to describe the location of genes on each chromosome.

Ideogram of chromosome 1
See How do geneticists indicate the location of a gene? ( in the Handbook.

Where can I find additional information about chromosome 1?

You may find the following resources about chromosome 1 helpful. These materials are written for the general public.

You may also be interested in these resources, which are designed for genetics professionals and researchers.

What glossary definitions help with understanding chromosome 1?

anemia ; autism ; bone marrow ; cancer ; cell ; chromosome ; clotting ; deficiency ; deletion ; developmental delay ; disability ; distal ; DNA ; gene ; inherited ; kb ; kidney ; leukemia ; Mb ; monosomy ; motif ; mutation ; myelodysplastic syndrome ; neuroblasts ; neurological ; platelets ; protein ; ring chromosomes ; RNA ; schizophrenia ; spectrum ; syndrome ; thrombocytopenia ; trisomy ; tumor ; tumor suppressor gene

You may find definitions for these and many other terms in the Genetics Home Reference Glossary.


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The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? ( in the Handbook.

Reviewed: November 2014
Published: February 1, 2016