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

Gene: GPR152

Alternate names for this Gene:

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rs1790761 in CABP4;GPR152 gene and Corpuscular Hemoglobin Concentration Mean PMID 23222517 2012 Seventy-five genetic loci influencing the human red blood cell.

rs1790761 in CABP4;GPR152 gene and Mean Corpuscular Volume (result) PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.