ID:TM237_HUMAN DESCRIPTION: RecName: Full=Transmembrane protein 237; AltName: Full=Amyotrophic lateral sclerosis 2 chromosomal region candidate gene 4 protein; 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. SEQUENCE CAUTION: Sequence=AAY14694.1; Type=Erroneous gene model prediction; Sequence=AAY15056.1; Type=Erroneous gene model prediction;
Protein Domain and Structure Information
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