Primary Identifier | MGI:1354723 | Organism | mouse, laboratory |
Chromosome | 8 | NCBI Gene Number | 50767 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables lysophospholipase activity. Acts upstream of or within angiogenesis and animal organ morphogenesis. Located in membrane. Is expressed in several structures, including brain; cranial nerve; epithelium; extraembryonic component; and genitourinary system. Human ortholog(s) of this gene implicated in Boucher-Neuhauser syndrome; Laurence-Moon syndrome; Oliver-McFarlane syndrome; and hereditary spastic paraplegia 39. Orthologous to human PNPLA6 (patatin like phospholipase domain containing 6). PHENOTYPE: Homozygous mutation of this gene results in embryonic lethality during early gestation. Conditional inactivation in the central nervous system leads to neurodegeneration. [provided by MGI curators] |