ALDH5A1

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ALDH5A1
Protein ALDH5A1 PDB 2W8N.png
Strwythurau
PDBHuman UniProt search: PDBe RCSB
Dynodwyr
CyfenwauALDH5A1, SSADH, SSDH, Aldehyde dehydrogenase 5 family, member A1, aldehyde dehydrogenase 5 family member A1
Dynodwyr allanolHomoloGene: 840 GeneCards: ALDH5A1
Patrwm RNA pattern
PBB GE ALDH5A1 203608 at fs.png

PBB GE ALDH5A1 203609 s at fs.png
Rhagor o gyfeiriadau
Orthologau
SpeciesBod dynolLlygoden
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_170740
NM_001080
NM_001368954

n/a

RefSeq (protein)

NP_001071
NP_733936
NP_001355883

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 ALDH5A1 yw ALDH5A1 a elwir hefyd yn Aldehyde dehydrogenase 5 family member A1 (Saesneg). Segment o DNA yw'r genyn, sy'n amgodio ffwythiant arbennig. Mae'r genyn yma wedi ei leoli ar yr edefyn blaen o gromosom dynol 6, band 6p22.3.[2]

Cyfystyron[golygu | golygu cod y dudalen]

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 ALDH5A1.

  • SSDH
  • SSADH

Llyfryddiaeth[golygu | golygu cod y dudalen]

  • "Mutation analysis and prenatal diagnosis in a Chinese family with succinic semialdehyde dehydrogenase and a systematic review of the literature of reported ALDH5A1 mutations. ". J Perinat Med. 2016. PMID 25431891.
  • "Suggestive association with ocular phoria at chromosome 6p22. ". Invest Ophthalmol Vis Sci. 2014. PMID 24327614.
  • "[Identification of ALDH5A1 gene mutations in a Chinese family affected with succinic semialdehyde dehydrogenase deficiency]. ". Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2017. PMID 28186584.
  • "Modeling conformational redox-switch modulation of human succinic semialdehyde dehydrogenase. ". Proteins. 2015. PMID 26422261.
  • "Inherited disorders of gamma-aminobutyric acid metabolism and advances in ALDH5A1 mutation identification.". Dev Med Child Neurol. 2014. PMID 25558043.

Cyfeiriadau[golygu | golygu cod y dudalen]