Etiketter

onsdag 23 november 2016

Pre-angiotensinogen Geeni AGT, sijainti :kromosomi 1q42.2.

 Angiotensinogen AGT kromosomi 1q42.2.

Official Symbol
AGTprovided by HGNC
Official Full Name
angiotensinogenprovided by HGNC
Primary source
HGNC:HGNC:333
See related
Ensembl:ENSG00000135744 HPRD:00106; MIM:106150; Vega:OTTHUMG00000037757
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
ANHU; SERPINA8
Summary
The protein encoded by this gene, pre-angiotensinogen or angiotensinogen precursor, is expressed in the liver and is cleaved by the enzyme renin in response to lowered blood pressure. The resulting product, angiotensin I, is then cleaved by angiotensin converting enzyme (ACE) to generate the physiologically active enzyme angiotensin II. The protein is involved in maintaining blood pressure and in the pathogenesis of essential hypertension and preeclampsia. Mutations in this gene are associated with susceptibility to essential hypertension, and can cause renal tubular dysgenesis, a severe disorder of renal tubular development. Defects in this gene have also been associated with non-familial structural atrial fibrillation, and inflammatory bowel disease. [provided by RefSeq, Jul 2008]

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