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ALS2CR4
Component of the transition zone in primary cilia. Required for ciliogenesis. Defects in TMEM237 are the cause of Joubert syndrome type 14 (JBTS14). 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. Belongs to the TMEM237 family. 5 isoforms of the human protein are produced by alternative splicing. Note: This description may include information from UniProtKB.
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| Protein type: Membrane protein, integral; Membrane protein, multi-pass |
| Chromosomal Location of Human Ortholog: 2q33.1 |
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Cellular Component: membrane
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Biological Process: regulation of Wnt receptor signaling pathway
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Disease: Joubert Syndrome 14
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Reference #:
Q96Q45
(UniProtKB)
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Alt. Names/Synonyms: AL2S4; ALS2CR4; ALS2CR4 protein, N-terminus truncated; amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 4; Amyotrophic lateral sclerosis 2 chromosomal region candidate gene 4 protein; DKFZp313L091; FLJ33282
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Gene Symbols: TMEM237
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Molecular weight:
45,526 Da
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Basal Isoelectric point:
6.09
Predict pI for various phosphorylation states
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