ALDH5A1

ALDH5A1
Strwythurau PDB Human UniProt search: PDBe RCSB Rhestr o ddynodwyr PDB 2W8N, 2W8O, 2W8P, 2W8Q, 2W8R
Dynodwyr
Cyfenwau	ALDH5A1, SSADH, SSDH, Aldehyde dehydrogenase 5 family, member A1, aldehyde dehydrogenase 5 family member A1
Dynodwyr allanol	OMIM: 610045 HomoloGene: 840 GeneCards: ALDH5A1
Patrwm RNA pattern Rhagor o gyfeiriadau
Ontoleg y genyn Gweithrediad moleciwlaidd • protein homodimerization activity • oxidoreductase activity • succinate-semialdehyde dehydrogenase (NAD+) activity • succinate-semialdehyde dehydrogenase [NAD(P)+ activity] • NAD binding • oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor Cydrannau o'r gell • mitochondrial matrix • mitocondria Prosesau biolegol • gamma-aminobutyric acid catabolic process • galactosylceramide metabolic process • glutathione metabolic process • gamma-aminobutyric acid metabolic process • post-embryonic development • short-chain fatty acid metabolic process • neurotransmitter catabolic process • glucosylceramide metabolic process • succinate metabolic process • central nervous system development • glutamine metabolic process • glucose metabolic process • glutamate metabolic process • glycerophospholipid metabolic process • metabolaeth • respiratory electron transport chain • protein homotetramerization • acetate metabolic process • glutamate decarboxylation to succinate Sources:Amigo / QuickGO
Orthologau
Species	Bod dynol	Llygoden
Entrez	7915	n/a
Ensembl	ENSG00000112294	n/a
UniProt	P51649	n/a
RefSeq (mRNA)	NM_170740 NM_001080 NM_001368954	n/a
RefSeq (protein)	NP_001071 NP_733936 NP_001355883	n/a
Lleoliad (UCSC)	n/a	n/a
PubMed search		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.

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 ALDH5A1.

• SSDH
• SSADH

Llyfryddiaeth

• "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.