CEP135 gene

centrosomal protein 135

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

From NCBI Gene:

This gene encodes a centrosomal protein, which acts as a scaffolding protein during early centriole biogenesis, and is also required for centriole-centriole cohesion during interphase. Mutations in this gene are associated with autosomal recessive primary microcephaly-8. [provided by RefSeq, Jun 2012]

From UniProt:

Centrosomal protein involved in centriole biogenesis. Acts as a scaffolding protein during early centriole biogenesis. Required for the targeting of centriole satellite proteins to centrosomes such as of PCM1, SSX2IP and CEP290 and recruitment of WRAP73 to centrioles. Also required for centriole-centriole cohesion during interphase by acting as a platform protein for CEP250 at the centriole.

From NCBI Gene:

  • Primary autosomal recessive microcephaly 8

From UniProt:

Microcephaly 8, primary, autosomal recessive (MCPH8): A disease defined as a head circumference more than 3 standard deviations below the age-related mean. Brain weight is markedly reduced and the cerebral cortex is disproportionately small. Despite this marked reduction in size, the gyral pattern is relatively well preserved, with no major abnormality in cortical architecture. Affected individuals are mentally retarded. Primary microcephaly is further defined by the absence of other syndromic features or significant neurological deficits due to degenerative brain disorder. [MIM:614673]

Cytogenetic Location: 4q12, which is the long (q) arm of chromosome 4 at position 12

Molecular Location: base pairs 55,948,808 to 56,033,363 on chromosome 4 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 4q12, which is the long (q) arm of chromosome 4 at position 12
  • CEP4
  • KIAA0635
  • MCPH8