|
TSGA14
Required during ciliogenesis for tubulin glutamylation in cilium. Probably acts by participating to the transport of TTLL6, a tubulin polyglutamylase, between the basal body and the cilium. Defects in CEP41 are the cause of Joubert syndrome type 15 (JBTS15). JBTS15 is an autosomal recessive disorder presenting with cerebellar ataxia, oculomotor apraxia, hypotonia, neonatal breathing abnormalities and psychomotor delay. 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 retinal dystrophy, renal disease, liver fibrosis and polydactyly. Genetic variations in CEP41 may be associated with susceptibility to autism. Belongs to the CEP41 family. 5 isoforms of the human protein are produced by alternative splicing. Note: This description may include information from UniProtKB.
|
| Protein type: Unknown function |
| Chromosomal Location of Human Ortholog: 6|6 A3.3 |
|
Cellular Component:
cell projection; centriole; centrosome; ciliary basal body; cilium; cytoplasm; cytoskeleton
|
|
Biological Process:
cell projection organization; cilium assembly; protein transport
|
|
Reference #:
Q99NF3
(UniProtKB)
|
|
Alt. Names/Synonyms: 1700017E11Rik; 2810431D15Rik; AI449046; AI503610; Centrosomal protein of 41 kDa; Cep41; OTTMUSP00000015289; testis specific gene A14; Testis-specific gene A14 protein; Tsga14
|
|
Gene Symbols: Tsga14
|
|
Molecular weight:
41,442 Da
|
|
Basal Isoelectric point:
8.32
Predict pI for various phosphorylation states
|
