PNPLA4 gene

patatin like phospholipase domain containing 4

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

From NCBI Gene:

This gene encodes a member of the patatin-like family of phospholipases. The encoded enzyme has both triacylglycerol lipase and transacylase activities and may be involved in adipocyte triglyceride homeostasis. Alternate splicing results in multiple transcript variants. A pseudogene of this gene is found on chromosome Y. [provided by RefSeq, Feb 2010]

From UniProt:

Has abundant triacylglycerol lipase activity (PubMed:15364929). Transfers fatty acid from triglyceride to retinol, hydrolyzes retinylesters, and generates 1,3-diacylglycerol from triglycerides (PubMed:17603008).

From UniProt:

Defects in PNPLA4 may play a role in mitochondrial disorders characterized by complex IV deficiency.

Cytogenetic Location: Xp22.31, which is the short (p) arm of the X chromosome at position 22.31

Molecular Location: base pairs 7,898,247 to 7,928,587 on the X chromosome (Homo sapiens Updated Annotation Release 109.20200522, GRCh38.p13) (NCBI)

Cytogenetic Location: Xp22.31, which is the short (p) arm of the X chromosome at position 22.31
  • DXS1283E
  • GS2
  • iPLA2eta