Primary Identifier | MGI:1097667 | Organism | mouse, laboratory |
Chromosome | 19 | NCBI Gene Number | 14376 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables glucan 1,3-alpha-glucosidase activity. Involved in N-glycan processing. Part of glucosidase II complex. Is expressed in several structures, including alimentary system; genitourinary system; heart; nervous system; and sensory organ. Human ortholog(s) of this gene implicated in polycystic kidney disease; polycystic kidney disease 3; and polycystic liver disease. Orthologous to human GANAB (glucosidase II alpha subunit). PHENOTYPE: Mice homozygous for a null allele exhibit early embryonic lethality before E3.5. Heterozygotes do not develop polycystic kidneys or polycystic livers. [provided by MGI curators] |