Gene Symbol | CABP4 |
Entrez Gene ID | 57010 |
Full Name | calcium binding protein 4 |
Synonyms | CRSD,CSNB2B |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | 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]. |
Disorder MIM: | |
Disorder Html: | Cone-rod synaptic disorder, congenital nonprogressive, 610427 (3) |