RCN1 Chromosome 11

Reticulocalbin 1
1 variant 1 Health Risk

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What This Gene Does
Reticulocalbin 1 is a calcium-binding protein located in the lumen of the ER. The protein contains six conserved regions with similarity to a high affinity Ca(+2)-binding motif, the EF-hand. High conservation of amino acid residues outside of these motifs, in comparison to mouse reticulocalbin, is consistent with a possible biochemical function besides that of calcium binding. In human endothelial and prostate cancer cell lines this protein localizes to the plasma membrane.[provided by RefSeq, Jan 2009]
Gene Info
Gene Group
CREC family
Locus Type
gene with protein product
Location
11p13
Ensembl
ENSG00000049449
Key Variants
All Variants (1)
RSID Category Clinical Significance Conditions
RS35942383 Health Risk Conflicting classifications of pathogenicity
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