CEP250 gene

centrosomal protein 250

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

From NCBI Gene:

This gene encodes a core centrosomal protein required for centriole-centriole cohesion during interphase of the cell cycle. The encoded protein dissociates from the centrosomes when parental centrioles separate at the beginning of mitosis. The protein associates with and is phosphorylated by NIMA-related kinase 2, which is also associated with the centrosome. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2015]

From UniProt:

May be involved in ciliogenesis (PubMed:28005958). Probably plays an important role in centrosome cohesion during interphase.

From NCBI Gene:

  • Cone-rod dystrophy and hearing loss 2

From UniProt:

Cone-rod dystrophy and hearing loss 2 (CRDHL2): An autosomal recessive disease defined by the association of progressive cone-rod dystrophy with sensorineural hearing loss. Cone-rod dystrophy is characterized by retinal pigment deposits visible on fundus examination, predominantly in the macular region, and initial loss of cone photoreceptors followed by rod degeneration. This leads to decreased visual acuity and sensitivity in the central visual field, followed by loss of peripheral vision. Severe loss of vision occurs earlier than in retinitis pigmentosa, due to cone photoreceptors degenerating at a higher rate than rod photoreceptors. [MIM:618358]

Cytogenetic Location: 20q11.22, which is the long (q) arm of chromosome 20 at position 11.22

Molecular Location: base pairs 35,455,137 to 35,519,280 on chromosome 20 (Homo sapiens Updated Annotation Release 109.20200522, GRCh38.p13) (NCBI)

Cytogenetic Location: 20q11.22, which is the long (q) arm of chromosome 20 at position 11.22
  • C-NAP1
  • CEP2
  • CNAP1
  • CRDHL2