Primary Identifier | MGI:107877 | Organism | mouse, laboratory |
Chromosome | 9 | NCBI Gene Number | 19089 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.1.0) Enables RNA binding activity and calcium ion binding activity. Acts upstream of or within in utero embryonic development; liver development; and negative regulation of neuron projection development. Part of glucosidase II complex. Is expressed in several structures, including brain; cardiovascular system; genitourinary system; gut; and hemolymphoid system gland. Used to study polycystic liver disease. Human ortholog(s) of this gene implicated in liver disease and polycystic liver disease. Orthologous to human PRKCSH (PRKCSH beta subunit of glucosidase II). PHENOTYPE: Mice homozygous for a knock-out allele exhibit embryonic lethality during organogenesis. Mice homozygous for a conditional allele activated in the kidneys or ubiquitously develop polycystic kidney and liver phenotypes, respectively. [provided by MGI curators] |