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

Chromosome 10

Reviewed August 2007

What is chromosome 10?

Humans normally have 46 chromosomes in each cell, divided into 23 pairs. Two copies of chromosome 10, one copy inherited from each parent, form one of the pairs. Chromosome 10 spans more than 135 million DNA building blocks (base pairs) and represents between 4 and 4.5 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 10 likely contains 700 to 800 genes that provide instructions for making proteins. These proteins perform a variety of different roles in the body.

Genes on chromosome 10 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 10:

  • ABCC2
  • ACTA2
  • ARMS2
  • BMPR1A
  • C10orf2
  • CDH23
  • CHAT
  • CHST3
  • COL17A1
  • CUBN
  • CYP2C9
  • CYP2C19
  • EGR2
  • ERCC6
  • FAS
  • FGFR2
  • HOGA1
  • HPS1
  • HPSE2
  • HTRA1
  • KAT6B
  • KLLN
  • LDB3
  • LGI1
  • LIPA
  • MAT1A
  • MBL2
  • OAT
  • PAX2
  • PCBD1
  • PDE6C
  • PHYH
  • POLR3A
  • PRF1
  • PSAP
  • PTEN
  • RET
  • RPS24
  • SLC29A3
  • SMC3
  • UROS

How are changes in chromosome 10 related to health conditions?

Many genetic conditions are related to changes in particular genes on chromosome 10. This list of disorders associated with genes on chromosome 10 provides links to additional information.

Genetics Home Reference provides information about the following conditions related to genes on chromosome 10:

  • 2-methylbutyryl-CoA dehydrogenase deficiency
  • achromatopsia
  • age-related macular degeneration
  • Apert syndrome
  • ataxia neuropathy spectrum
  • autoimmune lymphoproliferative syndrome
  • autosomal dominant partial epilepsy with auditory features
  • Bannayan-Riley-Ruvalcaba syndrome
  • Beare-Stevenson cutis gyrata syndrome
  • breast cancer
  • cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy
  • Charcot-Marie-Tooth disease
  • cholesteryl ester storage disease
  • CHST3-related skeletal dysplasia
  • clopidogrel resistance
  • Cockayne syndrome
  • congenital myasthenic syndrome
  • Cornelia de Lange syndrome
  • Cowden syndrome
  • Crouzon syndrome
  • Diamond-Blackfan anemia
  • Dubin-Johnson syndrome
  • familial dilated cardiomyopathy
  • familial hemophagocytic lymphohistiocytosis
  • familial thoracic aortic aneurysm and dissection
  • genitopatellar syndrome
  • gyrate atrophy of the choroid and retina
  • head and neck squamous cell carcinoma
  • Hermansky-Pudlak syndrome
  • Hirschsprung disease
  • histiocytosis-lymphadenopathy plus syndrome
  • hypermethioninemia
  • Imerslund-Gräsbeck syndrome
  • infantile-onset spinocerebellar ataxia
  • Jackson-Weiss syndrome
  • junctional epidermolysis bullosa
  • juvenile polyposis syndrome
  • lacrimo-auriculo-dento-digital syndrome
  • lung cancer
  • mannose-binding lectin deficiency
  • metachromatic leukodystrophy
  • multiple endocrine neoplasia
  • myofibrillar myopathy
  • nonsyndromic hearing loss
  • nonsyndromic paraganglioma
  • Ochoa syndrome
  • Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant
  • Perrault syndrome
  • Pfeiffer syndrome
  • Pol III-related leukodystrophy
  • porphyria
  • primary hyperoxaluria
  • progressive external ophthalmoplegia
  • prostate cancer
  • Refsum disease
  • renal coloboma syndrome
  • tetrahydrobiopterin deficiency
  • Usher syndrome
  • UV-sensitive syndrome
  • warfarin sensitivity
  • Wolman disease

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 10.


Changes in the number and structure of chromosome 10 are associated with several types of cancer. For example, a loss of all or part of chromosome 10 is often found in brain tumors called gliomas, particularly in aggressive, fast-growing gliomas. The association of cancerous tumors with a loss of chromosome 10 suggests that some genes on this chromosome play critical roles in controlling the growth and division of cells. Without these genes, cells could grow and divide too quickly or in an uncontrolled way, resulting in cancer. Researchers are working to identify the specific genes on chromosome 10 that may be involved in the development and progression of gliomas.

A complex rearrangement (translocation) of genetic material between chromosomes 10 and 11 is associated with several types of blood cancer known as leukemias. This chromosomal abnormality is found only in cancer cells. It fuses part of a specific gene from chromosome 11 (the MLL gene) with part of another gene from chromosome 10 (the MLLT10 gene). The abnormal protein produced from this fused gene signals cells to divide without control or order, leading to the development of cancer.

Crohn disease

Variations in a particular region of chromosome 10 have been associated with the risk of developing Crohn disease. These genetic changes are located on the long (q) arm of the chromosome at a position designated 10q21.1. Researchers refer to this part of chromosome 10 as a "gene desert" because it contains no known genes. However, it may contain stretches of DNA that help regulate nearby genes such as ERG2. This gene has a potential role in immune system function, and researchers are interested in studying the gene further to determine whether it is associated with Crohn disease risk.

other chromosomal conditions

Other changes in the number or structure of chromosome 10 can have a variety of effects. Intellectual disability, delayed growth and development, distinctive facial features, and heart defects are common features. Changes to chromosome 10 include an extra piece of the chromosome in each cell (partial trisomy), a missing segment of the chromosome in each cell (partial monosomy), and an abnormal structure called a ring chromosome 10. Ring chromosomes occur when a chromosome breaks in two places and the ends of the chromosome arms fuse together to form a circular structure. Rearrangements (translocations) of genetic material between chromosomes can also lead to extra or missing material from chromosome 10.

Is there a standard way to diagram chromosome 10?

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 10
See How do geneticists indicate the location of a gene? ( in the Handbook.

Where can I find additional information about chromosome 10?

You may find the following resources about chromosome 10 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 10?

cancer ; cell ; chromosome ; disability ; DNA ; gene ; immune system ; inherited ; monosomy ; progression ; protein ; rearrangement ; ring chromosomes ; translocation ; trisomy

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: August 2007
Published: February 8, 2016