Gene: CABP4

Alternate names for this Gene: CRSD|CSNB2B

Gene 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.

Gene is located in Chromosome: 11

Location in Chromosome : 11q13.2

Description of this Gene: calcium binding protein 4

Type of Gene: protein-coding

rs150115958 in CABP4 gene and Achromatopsia PMID 30718709 2019 Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.

rs150115958 in CABP4 gene and Cone-Rod Dystrophies PMID 30718709 2019 Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.

rs121917828 in CABP4 gene and Cone-rod synaptic disorder, congenital nonprogressive PMID 16960802 2006 Mutations in CABP4, the gene encoding the Ca2+-binding protein 4, cause autosomal recessive night blindness.

rs11601325 in CABP4 gene and Corpuscular Hemoglobin Concentration Mean PMID 23222517 2012 Seventy-five genetic loci influencing the human red blood cell.

rs12803635 in CABP4 gene and Mean Corpuscular Volume (result) PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.