Entity Details

Primary name ALDH1A3
Entity type gene
Source Source Link

Details

PrimaryID220
RefseqGeneNG_012254
SymbolALDH1A3
Namealdehyde dehydrogenase 1 family member A3
Chromosome15
Location15q26.3
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate2001-03-31
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsAL1A3_HUMAN

GO terms

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GOName
GO:0001758 retinal dehydrogenase activity
GO:0002072 optic cup morphogenesis involved in camera-type eye development
GO:0002138 retinoic acid biosynthetic process
GO:0004029 aldehyde dehydrogenase (NAD+) activity
GO:0004030 aldehyde dehydrogenase [NAD(P)+] activity
GO:0005737 cytoplasm
GO:0005829 cytosol
GO:0007626 locomotory behavior
GO:0021768 nucleus accumbens development
GO:0031076 embryonic camera-type eye development
GO:0042472 inner ear morphogenesis
GO:0042572 retinol metabolic process
GO:0042573 retinoic acid metabolic process
GO:0042574 retinal metabolic process
GO:0042803 protein homodimerization activity
GO:0043065 positive regulation of apoptotic process
GO:0048048 embryonic eye morphogenesis
GO:0050885 neuromuscular process controlling balance
GO:0051289 protein homotetramerization
GO:0060013 righting reflex
GO:0060166 olfactory pit development
GO:0060324 face development
GO:0070062 extracellular exosome
GO:0070324 thyroid hormone binding
GO:0070384 Harderian gland development
GO:0070403 NAD+ binding

Diseases

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Disease IDSourceNameDescription
615113 OMIMMicrophthalmia, isolated, 8 (MCOP8)A disorder of eye formation, ranging from small size of a single eye to complete bilateral absence of ocular tissues. Ocular abnormalities like opacities of the cornea and lens, scaring of the retina and choroid, and other abnormalities may also be present. The disease is caused by variants affecting the gene represented in this entry.