CALU Chromosome 7
Calumenin
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What This Gene Does
The product of this gene is a calcium-binding protein localized in the endoplasmic reticulum (ER) and it is involved in such ER functions as protein folding and sorting. This protein belongs to a family of multiple EF-hand proteins (CERC) that include reticulocalbin, ERC-55, and Cab45 and the product of this gene. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Oct 2008]
Gene Info
Gene Group
CREC family
Locus Type
gene with protein product
Location
7q32.1
Ensembl
ENSG00000128595
Associated Conditions (1)
Developmental disorder
Key Variants
All Variants (1)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2536275504 | Health Risk | Likely pathogenic | Developmental disorder, Developmental disorder |