AC008764.1

The protein encoded by this gene belongs to the calreticulin family, members of which are calcium-binding chaperones localized mainly in the endoplasmic reticulum. This protein is also localized to the endoplasmic reticulum lumen, however, its capacity for calcium-binding may be absent or much lower than other family members. This gene is specifically expressed in the testis, and may be required for sperm fertility. Mutation in this gene has been associated with familial hypertrophic cardiomyopathy. [provided by RefSeq, Dec 2011]

Description

Novel protein

Predicted location

Protein family

-

Chromosome

19 (16479067 - 16628204)

Ensembl ID

ENSG00000141979  (ver. 103.38)

Orthologs

-

UniProt

 

neXtProt

 

Human splice variants

Protein structure