Gene Symbol | PNPLA8 |
Entrez Gene ID | 50640 |
Full Name | patatin like phospholipase domain containing 8 |
Synonyms | IPLA2-2,IPLA2G,MMLA,PNPLA-gamma,iPLA2gamma |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | This gene encodes a member of the patatin-like phospholipase domain containing protein family. Members of this family are phospholipases which catalyze the cleavage of fatty acids from membrane phospholipids. The product of this gene is a calcium-independent phospholipase. Mutations in this gene have been associated with mitochondrial myopathy with lactic acidosis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2015]. |
Disorder MIM: | |
Disorder Html: | ?Mitochondrial myopathy with lactic acidosis, 251950 (3) |