Primary Identifier | MGI:1919358 | Organism | mouse, laboratory |
Chromosome | 8 | NCBI Gene Number | 72108 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables triacylglycerol lipase activity. Involved in lipid droplet organization and triglyceride catabolic process. Acts upstream of or within positive regulation of mitochondrial fission. Located in membrane. Used to study hereditary spastic paraplegia 54. Human ortholog(s) of this gene implicated in hereditary spastic paraplegia 54. Orthologous to human DDHD2 (DDHD domain containing 2). PHENOTYPE: Mice homozygous for a null mutation display impaired balance and coordination, impaired spatial learning and memory and triglyceride accumulation in neurons in the brain and spinal cord. [provided by MGI curators] |