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
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
rs104893940 in
MED23;ARG1 gene and
Hyperargininemia
PMID 24103480 2014 Novel complex re-arrangement of ARG1 commonly shared by unrelated patients with hyperargininemia.
PMID 8902193 1996 Loss of function mutations in conserved regions of the human arginase I gene.
PMID 18957279 2009 Studies on the functional significance of a C-terminal S-shaped motif in human arginase type I: essentiality for cooperative effects.
PMID 1598908 1992 Molecular genetic study of human arginase deficiency.
PMID 27038030 2016 Clinical phenotype, biochemical profile, and treatment in 19 patients with arginase 1 deficiency.
PMID 19052914 2008 Amino acids in CSF and plasma in hyperammonaemic coma due to arginase1 deficiency.
PMID 22959135 2012 Analysis of novel ARG1 mutations causing hyperargininemia and correlation with arginase I activity in erythrocytes.
PMID 7649538 1995 Molecular basis of phenotypic variation in patients with argininemia.
PMID 23859858 2013 Five novel mutations in ARG1 gene in Chinese patients of argininemia.
PMID 1463019 1992 Three novel mutations in the liver-type arginase gene in three unrelated Japanese patients with argininemia.
PMID 10502833 1999 Identification of a novel R21X mutation in the liver-type arginase gene (ARG1) in four Portuguese patients with argininemia.
PMID 21802329 2012 Arginase I deficiency: severe infantile presentation with hyperammonemia: more common than reported?
PMID 11883902 2002 Functional consequences of the G235R mutation in liver arginase leading to hyperargininemia.
PMID 12052859 2002 Mouse model for human arginase deficiency.
PMID 26169240 2015 Characterization and mRNA expression analysis of a novel ARG1 splicing mutation causing hyperargininemia.
PMID 7981719 1994 Identification of mutations (D128G, H141L) in the liver arginase gene of patients with hyperargininemia.