CABP4 gene

calcium binding protein 4

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

From NCBI Gene:

This gene encodes a member of the CABP family of calcium binding protein characterized by four EF-hand motifs. Mutations in this gene are associated with congenital stationary night blindness type 2B. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jul 2014]

From UniProt:

Involved in normal synaptic function through regulation of Ca(2+) influx and neurotransmitter release in photoreceptor synaptic terminals and in auditory transmission. Modulator of CACNA1D and CACNA1F, suppressing the calcium-dependent inactivation and shifting the activation range to more hyperpolarized voltages.

Covered on Genetics Home Reference:

From NCBI Gene:

  • Congenital stationary night blindness, type 2B

From UniProt:

Cone-rod synaptic disorder, congenital non-progressive (CRSD): A non-progressive retinal disorder characterized by stable low vision, nystagmus, photophobia, a normal or near-normal fundus appearance, and no night blindness. [MIM:610427]

Cytogenetic Location: 11q13.2, which is the long (q) arm of chromosome 11 at position 13.2

Molecular Location: base pairs 67,452,406 to 67,461,774 on chromosome 11 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 11q13.2, which is the long (q) arm of chromosome 11 at position 13.2
  • CRSD
  • CSNB2B