Primary Identifier | MGI:2385286 | Organism | mouse, laboratory |
Chromosome | 7 | NCBI Gene Number | 233575 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to be involved in GPI anchor biosynthetic process and protein localization to plasma membrane. Predicted to be located in Golgi membrane. Predicted to be active in endoplasmic reticulum membrane. Is expressed in several structures, including alimentary system; brain; extraembryonic component; genitourinary system; and sensory organ. Human ortholog(s) of this gene implicated in hyperphosphatasia with impaired intellectual development syndrome 3. Orthologous to human PGAP2 (post-GPI attachment to proteins 2). PHENOTYPE: Mouse embryos homozygous for an ENU-induced mutation exhibit a flattened head, edema, exencephaly, cleft lip and palate, short humeri and radii, and bone ossification deficiencies . Homozygous KO is early embryonic lethal. [provided by MGI curators] |