RCN1

Chr 11

reticulocalbin 1

Also known as: HEL-S-84, PIG20, RCAL, RCN

NCBI Gene: 5954 ENSG00000049449 UniProt: Q15293 OMIM: 602735

Reticulocalbin 1 is a calcium-binding protein that localizes to the endoplasmic reticulum lumen and may regulate calcium-dependent cellular activities. Mutations in RCN1 cause autosomal recessive developmental and epileptic encephalopathy with onset in infancy. The gene shows low constraint against loss-of-function variants, which is consistent with a recessive inheritance pattern.

OMIM ResearchSummary from RefSeq, UniProt

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]

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

1.13

LOEUF

Multiple*

Mechanism· predicted