SRI Chromosome 7
Sorcin
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What This Gene Does
This gene encodes a calcium-binding protein with multiple E-F hand domains that relocates from the cytoplasm to the sarcoplasmic reticulum in response to elevated calcium levels. In addition to regulating intracellular calcium homeostasis it also modulates excitation-contraction coupling in the heart. Alternative splicing results in multiple transcript variants encoding distinct proteins. Multiple pseudogenes exist for this gene. [provided by RefSeq, Mar 2012]
Gene Info
Gene Group
EF-hand domain containing
Locus Type
gene with protein product
Location
7q21.12
Ensembl
ENSG00000075142
Associated Conditions (1)
Inborn genetic diseases
All Variants (1)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS869312940 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |