TMEM237

The protein encoded by this gene is a tetraspanin protein that is thought to be involved in WNT signaling. Defects in this gene are a cause of Joubert syndrome-14. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012]

Full Name

TMEM237 Gene(Protein Coding) Transmembrane Protein 237

Function

Component of the transition zone in primary cilia. Required for ciliogenesis.

Biological Process

Biological Process cilium assemblySource:UniProtKB1 Publication
Biological Process regulation of Wnt signaling pathwaySource:UniProtKB1 Publication

Cellular Location

Membrane
Cell projection, cilium
Localizes at the proximal region of primary cilia were observed, consistent with localization to the transition zone. Anchored to the transition zone by RPGRIP1L.

Involvement in disease

Joubert syndrome 14 (JBTS14):
An autosomal recessive disorder characterized by severe intellectual disability, hypotonia, breathing abnormalities in infancy, and dysmorphic facial features. 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 renal disease, abnormal eye movements, and postaxial polydactyly.