TMEM67

The official name of this gene is “transmembrane protein 67.”

TMEM67 is the gene's official symbol. The TMEM67 gene is also known by other names, listed below.

Read more about gene names and symbols on the About page.

Genetics Home Reference provides information about these conditions associated with changes in the TMEM67 gene:

• Joubert syndrome
• Meckel syndrome

UniProt provides the following information about the TMEM67 gene's known or predicted involvement in human disease.

Note=Ciliary dysfunction leads to a broad spectrum of disorders, collectively termed ciliopathies. Overlapping clinical features include retinal degeneration, renal cystic disease, skeletal abnormalities, fibrosis of various organ, and a complex range of anatomical and functional defects of the central and peripheral nervous system. The ciliopathy range of diseases includes Meckel-Gruber syndrome, Bardet-Biedl syndrome, Joubert syndrome, and nephronophtisis among others. Single-locus allelism is insufficient to explain the variable penetrance and expressivity of such disorders, leading to the suggestion that variations across multiple sites of the ciliary proteome influence the clinical outcome.

Meckel syndrome 3 (MKS3)^[1]: A disorder characterized by a combination of renal cysts and variably associated features including developmental anomalies of the central nervous system (typically encephalocele), hepatic ductal dysplasia and cysts, and polydactyly. Note=The disease is caused by mutations affecting the gene represented in this entry.

Joubert syndrome 6 (JBTS6)^[2]: A disorder presenting with cerebellar ataxia, oculomotor apraxia, hypotonia, neonatal breathing abnormalities and psychomotor delay. Neuroradiologically, it is characterized by cerebellar vermian hypoplasia/aplasia, thickened and reoriented superior cerebellar peduncles, and an abnormally large interpeduncular fossa, giving the appearance of a molar tooth on transaxial slices (molar tooth sign). Additional variable features include retinal dystrophy and renal disease. Note=The disease is caused by mutations affecting the gene represented in this entry.

COACH syndrome (COACHS)^[3]: A disorder characterized by mental retardation, ataxia due to cerebellar hypoplasia, and hepatic fibrosis. Patients present the molar tooth sign, a midbrain-hindbrain malformation pathognomonic for Joubert syndrome and related disorders. Other features, such as coloboma and renal cysts, may be variable. Note=The disease is caused by mutations affecting the gene represented in this entry.

Nephronophthisis 11 (NPHP11)^[4]: A disorder characterized by the association of nephronophthisis with hepatic fibrosis. Nephronophthisis is a progressive tubulo-interstitial kidney disorder histologically characterized by modifications of the tubules with thickening of the basement membrane, interstitial fibrosis and, in the advanced stages, medullary cysts. Typical clinical features are chronic renal failure, anemia, polyuria, polydipsia, isosthenuria, and growth retardation. Associations with extrarenal symptoms, especially ocular lesions, are frequent. Note=The disease is caused by mutations affecting the gene represented in this entry.

Entrez Gene lists the following diseases or traits (phenotypes) known or believed to be associated with changes in the TMEM67 gene.

• Bardet-Biedl syndrome^[5]
• COACH syndrome^[3]
• Joubert syndrome 6^[2]
• Meckel syndrome type 3^[1]
• Nephronophthisis 11^[4]

UniProt and Entrez Gene cite these articles in OMIM, a catalog designed for genetics professionals and researchers that provides detailed information about genetic conditions and genes.

	Article Number	Main Topic
[1]	607361	MECKEL SYNDROME, TYPE 3
[2]	610688	JOUBERT SYNDROME 6
[3]	216360	COACH SYNDROME
[4]	613550	NEPHRONOPHTHISIS 11
[5]	209900	BARDET-BIEDL SYNDROME
	609884	TRANSMEMBRANE PROTEIN 67

Cytogenetic Location: 8q22.1

Molecular Location on chromosome 8: base pairs 94,767,071 to 94,831,461

The TMEM67 gene is located on the long (q) arm of chromosome 8 at position 22.1.

More precisely, the TMEM67 gene is located from base pair 94,767,071 to base pair 94,831,461 on chromosome 8.

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

You and your healthcare professional may find the following resources about TMEM67 helpful.

• Genetic Testing Registry - Repository of genetic test information
  • GTR: Genetic tests for TMEM67

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

• OMIM - Genetic disorder catalog
  • BARDET-BIEDL SYNDROME
  • COACH SYNDROME
  • MECKEL SYNDROME, TYPE 3
  • TRANSMEMBRANE PROTEIN 67
  • JOUBERT SYNDROME 6
  • NEPHRONOPHTHISIS 11
• Research Resources - Tools for researchers
  • Entrez Gene
  • GeneCards
  • HUGO Gene Nomenclature Committee
  • UniProt

The Handbook provides basic information about genetics in clear language.

• What is DNA?
• What is a gene?
• How do genes direct the production of proteins?
• How can gene mutations affect health and development?

These links provide additional genetics resources that may be useful.

• Genetics education
• Human Genome Project
• Resources for Genetic Researchers

anemia ; apraxia ; ataxia ; autosomal ; autosomal recessive ; cell ; central nervous system ; centriole ; centrosome ; chronic ; cilium ; congenital ; cysts ; diabetes ; diabetes mellitus ; duplication ; dysplasia ; endoplasmic reticulum ; expressivity ; fibrosis ; gene ; hepatic ; heterozygosity ; hypertension ; hypoplasia ; hypotonia ; inheritance ; isoforms ; kidney ; locus ; malformation ; mental retardation ; morphology ; mutation ; neonatal ; nervous system ; penetrance ; peripheral ; peripheral nervous system ; plasma membrane ; polydactyly ; polydipsia ; polyuria ; protein ; proteome ; psychomotor ; recessive ; renal ; renal disease ; sign ; spectrum ; syndrome ; tissue ; transcript

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

See also Understanding Medical Terminology.