CEP41 gene

centrosomal protein 41

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

This gene encodes a centrosomal and microtubule-binding protein which is predicted to have two coiled-coil domains and a rhodanese domain. In human retinal pigment epithelial cells the protein localized to centrioles and cilia. Mutations in this gene have been associated with Joubert Syndrome 15; an autosomal recessive ciliopathy and neurological disorder. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2012]

From UniProt:

Required during ciliogenesis for tubulin glutamylation in cilium. Probably acts by participating in the transport of TTLL6, a tubulin polyglutamylase, between the basal body and the cilium.

From NCBI Gene:

  • Joubert syndrome 15
  • Familial aplasia of the vermis

From UniProt:

Genetic variations in CEP41 may be associated with susceptibility to autism (PubMed:21438139).

Joubert syndrome 15 (JBTS15): 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. [MIM:614464]

Cytogenetic Location: 7q32, which is the long (q) arm of chromosome 7 at position 32

Molecular Location: base pairs 130,393,771 to 130,441,210 on chromosome 7 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 7q32, which is the long (q) arm of chromosome 7 at position 32
  • JBTS15
  • TSGA14