Gene: C12orf43

Alternate names for this Gene: Custos

Gene Summary:

Gene is located in Chromosome: 12

Location in Chromosome : 12q24.31

Description of this Gene: chromosome 12 open reading frame 43

Type of Gene: protein-coding

Gene: HNF1A

Alternate names for this Gene: HNF-1A|HNF1|HNF4A|IDDM20|LFB1|MODY3|TCF-1|TCF1

Gene Summary: The protein encoded by this gene is a transcription factor required for the expression of several liver-specific genes. The encoded protein functions as a homodimer and binds to the inverted palindrome 5'-GTTAATNATTAAC-3'. Defects in this gene are a cause of maturity onset diabetes of the young type 3 (MODY3) and also can result in the appearance of hepatic adenomas. Alternative splicing results in multiple transcript variants encoding different isoforms.

Gene is located in Chromosome: 12

Location in Chromosome : 12q24.31

Description of this Gene: HNF1 homeobox A

Type of Gene: protein-coding

rs1169306 in C12orf43;HNF1A gene and C-reactive protein measurement PMID 23844046 2013 Are C-reactive protein associated genetic variants associated with serum levels and retinal markers of microvascular pathology in Asian populations from Singapore?

PMID 24763700 2014 New variants including ARG1 polymorphisms associated with C-reactive protein levels identified by genome-wide association and pathway analysis.

PMID 18439552 2008 Polymorphisms of the HNF1A gene encoding hepatocyte nuclear factor-1 alpha are associated with C-reactive protein.

PMID 31217584 2019 Genetic analyses of diverse populations improves discovery for complex traits.

rs1169310 in C12orf43;HNF1A gene and Pseudocholinesterase Measurement PMID 21943158 2011 Genetic variants in LPL, OASL and TOMM40/APOE-C1-C2-C4 genes are associated with multiple cardiovascular-related traits.