Lipin 1 (LPIN1)

Lipin-1 has phosphatidate phosphatase activity.This gene represents a candidate gene for human lipodystrophy, characterized by loss of body fat, fatty liver, hypertriglyceridemia, and insulin resistance. Mouse studies suggest that this gene functions during normal adipose tissue development and may also play a role in human triglyceride metabolism.

Database analysis identified the human LPIN1 gene, as well as the human and mouse LPIN2 and LPIN3 genes. Consistent with the observed reduction of adipose tissue mass in fld mice, wildtype Lpin1 mRNA was expressed at high levels in adipose tissue and was induced during differentiation of 3T3-L1 preadipocytes. The results indicated that lipin is required for normal adipose tissue development, and provided a candidate gene for human lipodystrophy.