HPCA Chromosome 1

Hippocalcin
2 variants 2 Health Risk

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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. This protein is associated with the plasma membrane. It has similarities to proteins located in the photoreceptor cells that regulate photosignal transduction in a calcium-sensitive manner. This protein displays recoverin activity and a calcium-dependent inhibition of rhodopsin kinase. It is identical to the rat and mouse hippocalcin proteins and thought to play an important role in neurons of the central nervous system in a number of species. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
EF-hand domain containing
Locus Type
gene with protein product
Location
1p35.1
Ensembl
ENSG00000121905
Associated Conditions (1)
Torsion dystonia 2
Key Variants
RS775863165
Pathogenic
Torsion dystonia 2, Torsion dystonia 2
Health Risk
RS786205675
Pathogenic
Torsion dystonia 2, Torsion dystonia 2
Health Risk
All Variants (2)
RSID Category Clinical Significance Conditions
RS775863165 Health Risk Pathogenic Torsion dystonia 2, Torsion dystonia 2
RS786205675 Health Risk Pathogenic Torsion dystonia 2, Torsion dystonia 2
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