Gene: PNPLA2

Alternate names for this Gene: 1110001C14Rik|ATGL|FP17548|PEDF-R|TTS-2.2|TTS2|iPLA2zeta

Gene Summary: This gene encodes an enzyme which catalyzes the first step in the hydrolysis of triglycerides in adipose tissue. Mutations in this gene are associated with neutral lipid storage disease with myopathy.

Gene is located in Chromosome: 11

Location in Chromosome : 11p15.5

Description of this Gene: patatin like phospholipase domain containing 2

Type of Gene: protein-coding

Gene: CRACR2B

Alternate names for this Gene: EFCAB4A

Gene Summary:

Gene is located in Chromosome: 11

Location in Chromosome : 11p15.5

Description of this Gene: calcium release activated channel regulator 2B

Type of Gene: protein-coding

rs796065303 in PNPLA2;CRACR2B gene and Neutral Lipid Storage Disease with Myopathy PMID 23449549 2013 Effects of bezafibrate treatment in a patient and a carrier with mutations in the PNPLA2 gene, causing neutral lipid storage disease with myopathy.

PMID 23232698 2013 Symptomatic lipid storage in carriers for the PNPLA2 gene.

PMID 17187067 2007 The gene encoding adipose triglyceride lipase (PNPLA2) is mutated in neutral lipid storage disease with myopathy.