Primary Identifier | MGI:1277122 | Organism | mouse, laboratory |
Chromosome | 7 | NCBI Gene Number | 52377 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable calcium ion binding activity. Involved in several processes, including ERAD pathway; phospholipid homeostasis; and surfactant homeostasis. Located in endoplasmic reticulum. Is expressed in several structures, including aorta; brain; genitourinary system; gut gland; and trachea. Orthologous to human RCN3 (reticulocalbin 3). PHENOTYPE: Mice homozygous for a knock-out allele exhibit neonatal lethality due to atelectasis-induced respiratory distress associated with failure of type II pneumocyte maturation, decreased surfactant protein secretion, altered surfactant phospholipid homeostasis, and abnormal lamellar body formation. [provided by MGI curators] |