Reference for AGXT. Search for AGXT

AI searches containing AGXT

AGXT

AGXT

Protein-coding gene in humans

Serine—pyruvate aminotransferase is an enzyme that in humans is encoded by the AGXT gene. This gene is expressed only in the liver and the encoded protein is

AGXT

Hyperoxaluria

Medical condition

needed] Type I primary hyperoxaluria (PH1) is associated mutations in the gene AGXT encoding Serine Pyruvate Aminotransferase, a key enzyme involved in oxalate

Hyperoxaluria

Primary hyperoxaluria

Medical condition

glyoxylate, which results in an overproduction of oxalate. Mutations in the genes AGXT and GRHPR cause PH1 and PH2, respectively, through decreased production or

Primary hyperoxaluria

Primary_hyperoxaluria

Lumasiran

Medication for the treatment of primary hyperoxaluria type 1

PH1, the mechanism of action of lumasiran is independent of the underlying AGXT gene mutation. Lumasiran was approved for medical use in the European Union

Lumasiran

Chromosome 2

Human chromosome

subfamily A (ABC1), member 12 ACTR1B: encoding protein Beta-centractin AGXT: alanine-glyoxylate aminotransferase (oxalosis I; hyperoxaluria I; glycolicaciduria;

Chromosome 2

Chromosome_2

CHK-336

Chemical compound

urinary oxalate excretion in mouse models of both primary hyperoxaluria 1 (Agxt knockout) and 2 (Grhpr knockout). Cox, Jennifer H.; Boily, Marc-Olivier;

CHK-336

List of genetic disorders

syndrome LMNA 1:18,000,000 Hyperlysinemia AASS recessive Hyperoxaluria, primary AGXT, GRHPR, DHDPSL Hyperphenylalaninemia 12q Hypoalphalipoproteinemia (Tangier

List of genetic disorders

List_of_genetic_disorders

Topics referred to by the same term

in Lakshadweep, India, IATA code AGX Aghul language, ISO 639-3 code agx AGXT, enzyme AG (disambiguation) This disambiguation page lists articles associated

AGX

Peroxisomal disorder

Medical condition

600964 PHYH E80.301 Acatalasia 115500 CAT E80.310 Hyperoxaluria type 1 259900 AGXT E80.311 Acyl-CoA oxidase deficiency 264470 ACOX1 E80.313 D-bifunctional protein

Peroxisomal disorder

Peroxisomal_disorder

Uniporter

Class of membrane transport proteins

absorption of certain amino acid in the intestines and kidneys Mutations in the AGXT gene encoding peroxisomal membrane transporter Primary Hyperoxaluria Metabolic

Uniporter

List of human protein-coding genes 1

HGNC:336; P30556 452 AGTR2 HGNC:338; P50052 453 AGTRAP HGNC:13539; Q6RW13 454 AGXT HGNC:341; P21549 455 AGXT2 HGNC:14412; Q9BYV1 456 AHCTF1 HGNC:24618; Q8WYP5

List of human protein-coding genes 1

List_of_human_protein-coding_genes_1

Aminotransferase, class V

Protein family

InterPro: IPR011340 2-aminoethylphosphonate—pyruvate transaminase InterPro: IPR012703 AGXT; KYNU; MOCOS; NFS1; PSAT1; SCLY; TLH6; Ouzounis C, Sander C (May 1993). "Homology

Aminotransferase, class V

Aminotransferase,_class_V

List of OMIM disorder codes

Hyperostosis, endosteal; 144750; LRP5 Hyperoxaluria, primary, type 1; 259900; AGXT Hyperoxaluria, primary, type II; 260000; GRHPR Hyperoxaluria, primary, type

List of OMIM disorder codes

List_of_OMIM_disorder_codes