Gene: PARVB

Alternate names for this Gene: CGI-56

Gene Summary: This gene encodes a member of the parvin family of actin-binding proteins, which play a role in cytoskeleton organization and cell adhesion. These proteins are associated with focal contacts and contain calponin homology domains that bind to actin filaments. This family member binds to alphaPIX and alpha-actinin, and it can inhibit the activity of integrin-linked kinase. This protein also functions in tumor suppression. Alternative splicing of this gene results in multiple transcript variants.

Gene is located in Chromosome: 22

Location in Chromosome : 22q13.31

Description of this Gene: parvin beta

Type of Gene: protein-coding

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

rs2073080 in PARVB;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.

rs2073080 in PARVB;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 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.