HPCAL1 Chromosome 2
Hippocalcin like 1
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What This Gene Does
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. [provided by RefSeq, Apr 2012]
Gene Info
Gene Group
EF-hand domain containing
Locus Type
gene with protein product
Location
2p25.1
Ensembl
ENSG00000115756
Associated Conditions (1)
Vascular endothelial growth factor (VEGF) inhibitor response
All Variants (1)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS11888704 | Health Risk | association | Vascular endothelial growth factor (VEGF) inhibitor response, Vascular endothelial growth factor (VEGF) inhibitor response |