Transmembrane Protein 231

Alternative Names

  • TMEM231

Associated Diseases

Meckel Syndrome, Type 11
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OMIM Number

614949

NCBI Gene ID

79583

Uniprot ID

Q9H6L2

Length

19,546 bases

No. of Exons

7

No. of isoforms

3

Protein Name

Transmembrane protein 231

Molecular Mass

36059 Da

Amino Acid Count

316

Genomic Location

chr16:75,536,741-75,556,286

Gene Map Locus
16q23.1

Description

The TMEM231 gene encodes a transmembrane ciliary protein that is a component of the tectonic-like complex, also known as the B9 or MKS complex.  This complex localizes to the basal body, a ring like structure in the transition zone at the base of the primary cilia, and plays an important role in preventing the diffusion of transmembrane proteins between the cilia and plasma membranes.  Knockdown of TMEM231 negatively affects ciliogenesis, probably because the diffusion barrier created by the B9 complex is essential for the formation and retention of ciliary components.  The protein is also involved in the Sonic hedgehog signaling pathway.  Based on studies of mouse orthologs, human TMEM231 protein is predicted to play a role in in-utero embryonic development, vasculature development, digit morphogenesis, eye development and neuroepithelial cell differentiation.

Mutations in the TMEM231 gene are associated with Meckel Syndrome, type 11 (MKS11) and Joubert Syndrome 20 (JBTS20).  MKS11 is an often fatal ciliopathy defined by the presence of occipital encephalocele, polydactyly, and polycystic kidneys.  JBTS20 is a phenotypically diverse disorder characterized by hypoplasia of the cerebellar vermis resulting in the neuroradiologic molar tooth sign, along with other neurological, ocular and renal manifestations.

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_001077418.3:c.664G>ASaudi ArabiaNC_000016.10:g.75542602C>TLikely Pathogenic, PathogenicPathogenicMeckel Syndrome, Type 11NG_033109.1:g.18685G>A; NM_001077418.3:c.664G>A; NP_001070886.1:p.Val222Ile39751475364619
NM_001077418.3:c.815A>CSaudi ArabiaNC_000016.10:g.75540130T>GPathogenicPathogenicMeckel Syndrome, Type 11NG_033109.1:g.21157A>C; NM_001077418.3:c.815A>C; NP_001070886.1:p.Gln272Pro39751475464620
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