Primary Identifier | MGI:2155302 | Organism | mouse, laboratory |
Chromosome | 10 | NCBI Gene Number | 140740 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable protein transmembrane transporter activity. Acts upstream of or within liver development; nitrogen cycle metabolic process; and protein targeting to ER. Predicted to be located in endoplasmic reticulum and membrane. Predicted to be part of Sec62/Sec63 complex. Is expressed in several structures, including adrenal gland; brain; cardiovascular system; genitourinary system; and pancreas. Human ortholog(s) of this gene implicated in polycystic liver disease 2. Orthologous to human SEC63 (SEC63 homolog, protein translocation regulator). PHENOTYPE: Mice homozygous for a knock-out allele exhibit early embryonic lethality. Mice homozygous for a conditional allele activated in the kidneys or ubiquitously develop polycystic kidney and liver phenotypes, respectively. [provided by MGI curators] |