Gene table of ALDH5A1 : aldehyde dehydrogenase 5 family member A1

Gene-disease associations table

Disease ID	Disease name	Source of annotation with ALDH5A1	OMIM link	Number of associated genes	genes
271980	SUCCINIC SEMIALDEHYDE DEHYDROGENASE DEFICIENCY	ClinVar, OMIM, HUMSAVAR	link to OMIM	1	ALDH5A1

Associated genes in ENSEMBL

Associated proteins - SwissProt Accession ID

Associated PDB IDs

Cytogenetic Band

Tandem repeats annotation

Transcription regulation as annotated in TRRUST

Associated KEGG pathways

KEGG pathway	KEGG ID	KEGG IC
Alanine, aspartate and glutamate metabolism	hsa00250	7.64
Metabolic pathways	hsa01100	2.49
Butanoate metabolism	hsa00650	7.96

Associated REACTOME pathways

REACTOME pathway	REACTOME ID	REACTOME IC
Neuronal System	R-HSA-112316	4.82
Transmission across Chemical Synapses	R-HSA-112315	5.28
GABA synthesis, release, reuptake and degradation	R-HSA-888590	8.73
Neurotransmitter Release Cycle	R-HSA-112310	7.34
Degradation of GABA	R-HSA-916853	11.98

Associated GO terms for Molecular function

GO term	GO ID	GO IC
NAD binding	GO:0051287	5.77
binding	GO:0005488	0.18
nucleotide binding	GO:0000166	1.96
heterocyclic compound binding	GO:1901363	1.06
nucleoside phosphate binding	GO:1901265	1.96
oxidoreductase activity	GO:0016491	3.12
anion binding	GO:0043168	4.17
coenzyme binding	GO:0050662	4.53
oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor	GO:0016620	6.13
ion binding	GO:0043167	1.36
	GO:0004777	9.74
identical protein binding	GO:0042802	2.63
protein homodimerization activity	GO:0042803	3.16
	GO:0004029	6.74
small molecule binding	GO:0036094	1.89
catalytic activity	GO:0003824	1.05
oxidoreductase activity, acting on the aldehyde or oxo group of donors	GO:0016903	5.87
cofactor binding	GO:0048037	4.16
	GO:0009013	9.74
organic cyclic compound binding	GO:0097159	1.05
carboxylic acid binding	GO:0031406	4.64
protein binding	GO:0005515	0.46
protein dimerization activity	GO:0046983	2.72