Gene: ARG1

Alternate names for this Gene: -

Gene Summary: Arginase catalyzes the hydrolysis of arginine to ornithine and urea. At least two isoforms of mammalian arginase exist (types I and II) which differ in their tissue distribution, subcellular localization, immunologic crossreactivity and physiologic function. The type I isoform encoded by this gene, is a cytosolic enzyme and expressed predominantly in the liver as a component of the urea cycle. Inherited deficiency of this enzyme results in argininemia, an autosomal recessive disorder characterized by hyperammonemia. Two transcript variants encoding different isoforms have been found for this gene.

Gene is located in Chromosome: 6

Location in Chromosome : 6q23.2

Description of this Gene: arginase 1

Type of Gene: protein-coding

Gene: MED23

Alternate names for this Gene: ARC130|CRSP130|CRSP133|CRSP3|DRIP130|MRT18|SUR-2|SUR2

Gene Summary: The activation of gene transcription is a multistep process that is triggered by factors that recognize transcriptional enhancer sites in DNA. These factors work with co-activators to direct transcriptional initiation by the RNA polymerase II apparatus. The protein encoded by this gene is a subunit of the CRSP (cofactor required for SP1 activation) complex, which, along with TFIID, is required for efficient activation by SP1. This protein is also a component of other multisubunit complexes e.g. thyroid hormone receptor-(TR-) associated proteins which interact with TR and facilitate TR function on DNA templates in conjunction with initiation factors and cofactors. This protein also acts as a metastasis suppressor. Several alternatively spliced transcript variants encoding different isoforms have been described for this gene.

Gene is located in Chromosome: 6

Location in Chromosome : 6q23.2

Description of this Gene: mediator complex subunit 23

Type of Gene: protein-coding

rs2781668 in ARG1;MED23 gene and Blood Protein Measurement PMID 30072576 2018 Co-regulatory networks of human serum proteins link genetics to disease.

rs2246012 in ARG1;MED23 gene and Body mass index PMID 30239722 2019 Meta-analysis of genome-wide association studies for body fat distribution in 694 649 individuals of European ancestry.

PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs2246012 in ARG1;MED23 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.

rs10484766 in ARG1;MED23 gene and High density lipoprotein measurement PMID 23063622 2012 Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.

rs771395982 in ARG1;MED23 gene and Hyperargininemia PMID 18957279 2009 Studies on the functional significance of a C-terminal S-shaped motif in human arginase type I: essentiality for cooperative effects.

rs10484766 in ARG1;MED23 gene and Low density lipoprotein cholesterol measurement PMID 23063622 2012 Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.

rs10484766 in ARG1;MED23 gene and Serum HDL cholesterol measurement PMID 23063622 2012 Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.

rs10484766 in ARG1;MED23 gene and Serum LDL cholesterol measurement PMID 23063622 2012 Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.