Gene: HPCAL1

Alternate names for this Gene: BDR1|HLP2|VILIP-3

Gene Summary: The protein encoded by this gene is a member of neuron-specific calcium-binding proteins family found in the retina and brain. It is highly similar to human hippocalcin protein and nearly identical to the rat and mouse hippocalcin like-1 proteins. It may be involved in the calcium-dependent regulation of rhodopsin phosphorylation and may be of relevance for neuronal signalling in the central nervous system. Several alternatively spliced transcript variants encoding the same protein have been found for this gene.

Gene is located in Chromosome: 2

Location in Chromosome : 2p25.1

Description of this Gene: hippocalcin like 1

Type of Gene: protein-coding

rs3755256 in HPCAL1 gene and Biliary Atresia PMID 20460270 2010 Genome-wide association study identifies a susceptibility locus for biliary atresia on 10q24.2.