background:
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].
Function:
Component of the transition zone in primary cilia. Required for ciliogenesis.
Subcellular Location:
Membrane; Multi-pass membrane protein (Potential). Cell projection, cilium. Note=Localizes at the proximal region of primary cilia were observed, consistent with localization to the transition zone. Anchored to the transition zone by RPGRIP1L.
DISEASE:
Defects in TMEM237 are the cause of Joubert syndrome type 14 (JBTS14) [MIM:614424]. An autosomal recessive disorder characterized by severe mental retardation, 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 JBTS14 features include renal disease, abnormal eye movements, and postaxial polydactyly.
Similarity:
Belongs to the TMEM237 family.
Database links:
UniProtKB/Swiss-Prot: Q96Q45.2
Important Note:
This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
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