AGA

1APY, 1APZ

AGA
AGA
Strwythurau
PDBHuman UniProt search: PDBe RCSB
Dynodwyr
CyfenwauAGA, Aga, AW060726, AGU, ASRG, GA, aspartylglucosaminidase
Dynodwyr allanolOMIM: 613228 HomoloGene: 13 GeneCards: AGA
EC number3.5.1.26
Patrwm RNA pattern




Rhagor o gyfeiriadau
Orthologau
SpeciesBod dynolLlygoden
Entrez

175

n/a

Ensembl

ENSG00000038002

n/a

UniProt

P20933

n/a

RefSeq (mRNA)

NM_000027
NM_001171988

n/a

RefSeq (protein)

NP_000018
NP_001165459

n/a

Lleoliad (UCSC)n/an/a
PubMed search[1]n/a
Wicidata
Gweld/Golygu Bod dynol

Protein sy'n cael ei godio yn y corff dynol gan y genyn AGA yw AGA a elwir hefyd yn N(4)-(beta-N-acetylglucosaminyl)-L-asparaginase ac Aspartylglucosaminidase (Saesneg). Segment o DNA yw'r genyn, sy'n amgodio ffwythiant arbennig. Mae'r genyn yma wedi ei leoli ar yr edefyn ôl o gromosom dynol 4, band 4q34.3.[2]

Cyfystyron

Yn aml mae gan enynnau lawer o gyfystyron. Mae hyn oherwydd eu bod yn aml yn cael eu darganfod gan nifer o bobl mewn cyd-destunau gwahanol heb wybod mai'r un genynnau oeddyn nhw. Hefyd mae gan wahanol gymunedau gwyddonol safonau gwahanol ar gyfer enwi genynnau. Dyma restr o gyfystyron ar gyfer y genyn AGA.

  • GA
  • AGU
  • ASRG

Llyfryddiaeth

  • "Plasma lysosomal enzyme activities in congenital disorders of glycosylation, galactosemia and fructosemia. ". Clin Chim Acta. 2009. PMID 19100247.
  • "Structural basis of aspartylglucosaminuria. ". Biochem Biophys Res Commun. 2008. PMID 18992224.
  • "Development of a model system for neuronal dysfunction in Fabry disease. ". Mol Genet Metab. 2016. PMID 27471012.
  • "Aspartylglucosaminuria: unusual neonatal presentation in Qatari twins with a novel aspartylglucosaminidase gene mutation and 3 new cases in a Turkish family. ". J Child Neurol. 2014. PMID 23271757.
  • "Expanding targets for a metabolic therapy of cancer: L-asparaginase.". Recent Pat Anticancer Drug Discov. 2012. PMID 21854356.

Cyfeiriadau

  1. ↑ "Human PubMed Reference:".
  2. ↑ AGA - Cronfa NCBI

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