Primary Identifier | MGI:1914413 | Organism | mouse, laboratory |
Chromosome | 11 | NCBI Gene Number | 67163 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.1.0) Enables calcium ion binding activity. Acts upstream of or within several processes, including ER overload response; ERAD pathway; and calcium ion homeostasis. Located in rough endoplasmic reticulum. Is expressed in several structures, including cerebellum external granule cell layer; liver; neural retina; submandibular gland primordium; and yolk sac. Orthologous to human CCDC47 (coiled-coil domain containing 47). PHENOTYPE: More than half of homozygous null mice die at early embryonic stages while the rest die shortly after birth. Mouse embryonic fibroblasts display insufficient Ca2+ contents in intracellular stores, impaired store-operated Ca2+ entry, and enhanced endoplasmic reticulum stress-induced apoptosis. [provided by MGI curators] |