Gene: SAMM50
Alternate names for this Gene: CGI-51|OMP85|SAM50|TOB55|TRG-3|YNL026W
Gene Summary: This gene encodes a component of the Sorting and Assembly Machinery (SAM) of the mitochondrial outer membrane. The Sam complex functions in the assembly of beta-barrel proteins into the outer mitochondrial membrane.
Gene is located in Chromosome: 22
Location in Chromosome : 22q13.31
Description of this Gene: SAMM50 sorting and assembly machinery component
Type of Gene: protein-coding
Gene: PNPLA3
Alternate names for this Gene: ADPN|C22orf20|iPLA(2)epsilon
Gene Summary: The protein encoded by this gene is a triacylglycerol lipase that mediates triacylglycerol hydrolysis in adipocytes. The encoded protein, which appears to be membrane bound, may be involved in the balance of energy usage/storage in adipocytes.
Gene is located in Chromosome: 22
Location in Chromosome : 22q13.31
Description of this Gene: patatin like phospholipase domain containing 3
Type of Gene: protein-coding
rs738491 in
SAMM50;PNPLA3 gene and
Fatty Liver Disease
PMID 23477746 2013 The ERLIN1-CHUK-CWF19L1 gene cluster influences liver fat deposition and hepatic inflammation in the NHLBI Family Heart Study.
rs2073082 in
SAMM50;PNPLA3 gene and
Non-alcoholic Fatty Liver Disease
PMID 23535911 2013 Genome-wide scan revealed that polymorphisms in the PNPLA3, SAMM50, and PARVB genes are associated with development and progression of nonalcoholic fatty liver disease in Japan.
PMID 22719876 2012 Genetic polymorphisms of the human PNPLA3 gene are strongly associated with severity of non-alcoholic fatty liver disease in Japanese.
PMID 29385134 2018 Risk estimation model for nonalcoholic fatty liver disease in the Japanese using multiple genetic markers.