Gene: PNPLA8

Alternate names for this Gene: IPLA2-2|IPLA2G|MMLA|PNPLA-gamma|iPLA2gamma

Gene 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.

Gene is located in Chromosome: 7

Location in Chromosome : 7q31.1

Description of this Gene: patatin like phospholipase domain containing 8

Type of Gene: protein-coding

rs188593748 in PNPLA8 gene and response to bronchodilator PMID 26634245 2015 A genome-wide association study identifies risk loci for spirometric measures among smokers of European and African ancestry.