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

rs4823182 in SAMM50 gene and Diabetes Mellitus, Non-Insulin-Dependent PMID 30054458 2018 Genome-wide association analyses identify 143 risk variants and putative regulatory mechanisms for type 2 diabetes.

rs2073079 in SAMM50 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.

rs2143571 in SAMM50 gene and Liver carcinoma PMID 29385134 2018 Risk estimation model for nonalcoholic fatty liver disease in the Japanese using multiple genetic markers.

rs2143571 in SAMM50 gene and Non-alcoholic Fatty Liver Disease PMID 22719876 2012 Genetic polymorphisms of the human PNPLA3 gene are strongly associated with severity of non-alcoholic fatty liver disease in Japanese.

PMID 29271184 2018 Additionally, rs2143571, rs3761472, and rs2073080 in the <i>SAMM50</i> gene showed significant associations with NAFLD (p＜8.56×10<sup>-8</sup>).

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.

rs2143571 in SAMM50 gene and Nonalcoholic Steatohepatitis PMID 29385134 2018 Risk estimation model for nonalcoholic fatty liver disease in the Japanese using multiple genetic markers.

rs2235776 in SAMM50 gene and Serum total cholesterol measurement PMID 26780889 2016 Meta-analysis of lipid-traits in Hispanics identifies novel loci, population-specific effects, and tissue-specific enrichment of eQTLs.

rs2143571 in SAMM50 gene and Steatohepatitis PMID 29385134 2018 Risk estimation model for nonalcoholic fatty liver disease in the Japanese using multiple genetic markers.