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 promotes cellular membrane hydrolysis and prostaglandin production (PubMed:10744668, PubMed:15695510). Catalyzes the hydrolysis of the sn-2 position of glycerophospholipids, phosphytidylserine and to a lower extent phosphatidylcholine (PubMed:10744668). Cleaves membrane phospholipids (PubMed:15695510). Participates in the generation of lipid second messengers through the mobilization of arachidonic acid in response to cellular stimuli. Synthesizes 2-arachidonoyl lysophosphatidylcholine, a key branch point metabolite in eicosanoid signaling (PubMed:15908428). Participates in the lipid plasticity of myocardium, plays a role in the generation of signaling metabolites and has a prominent effect on the modulaton of energy storage and utilization (PubMed:17213206). Essential for maintaining efficient bioenergetic mitochondrial function through tailoring mitochondrial membrane lipid metabolism and composition (By similarity).

From NCBI Gene:

  • Mitochondrial myopathy-lactic acidosis-deafness syndrome

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: 7q31.1, which is the long (q) arm of chromosome 7 at position 31.1

Molecular Location: base pairs 108,470,417 to 108,528,178 on chromosome 7 (Homo sapiens Updated Annotation Release 109.20200522, GRCh38.p13) (NCBI)

Cytogenetic Location: 7q31.1, which is the long (q) arm of chromosome 7 at position 31.1
  • IPLA2-2
  • IPLA2G
  • iPLA2gamma
  • MMLA
  • PNPLA-gamma