PNPLA8 gene

patatin like phospholipase domain containing 8

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

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]

From UniProt:

Calcium-independent phospholipase A2, which catalyzes the hydrolysis of the sn-2 position of glycerophospholipids, PtdSer and to a lower extent PtdCho. Cleaves membrane phospholipids.

From NCBI Gene:

  • Mitochondrial myopathy with lactic acidosis

From UniProt:

Mitochondrial myopathy with lactic acidosis (MMLA): An autosomal recessive disorder characterized by progressive muscle weakness, hypotonia, seizures, poor weight gain, lactic acidosis, and elevated serum pyruvate concentration. Some patients manifest growth failure and moderate neural deafness. [MIM:251950]

Cytogenetic Location: 7q31, which is the long (q) arm of chromosome 7 at position 31

Molecular Location: base pairs 108,470,417 to 108,528,161 on chromosome 7 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 7q31, which is the long (q) arm of chromosome 7 at position 31
  • IPLA2-2
  • IPLA2G
  • iPLA2gamma
  • MMLA
  • PNPLA-gamma