LPIN2

LPIN2

A gene on chromosome 18p11.31 that encodes a magnesium-dependent phosphatidate phosphatase, which converts phosphatidic acid to diacylglycerol during triglyceride, phosphatidylcholine and phosphatidylethanolamine synthesis in the endoplasmic reticulum, and which acts a nuclear transcriptional coactivator for PPARGC1A/PPARA, modulating lipid metabolism-related gene expression.

Molecular pathology
LPIN2 mutations may cause lipodystrophy.
References in periodicals archive ?
Mutations in LPIN2 cause a syndromic form of CRMO, and mutations in proline-serinethreonine phosphatase interacting protein 2 (PSTPIP2) cause a murine form of the disorder.
Little is known about the function of the gene LPIN2 (4) in Majeed syndrome, but its mutations could lead to the production of more pro-inflammatory signals.
A splice site mutation confirms the role of LPIN2 in Majeed syndrome.