ALDH1A2 Chromosome 15

Aldehyde dehydrogenase 1 family member A2
4 variants 4 Health Risk

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What This Gene Does
This protein belongs to the aldehyde dehydrogenase family of proteins. The product of this gene is an enzyme that catalyzes the synthesis of retinoic acid (RA) from retinaldehyde. Retinoic acid, the active derivative of vitamin A (retinol), is a hormonal signaling molecule that functions in developing and adult tissues. The studies of a similar mouse gene suggest that this enzyme and the cytochrome CYP26A1, concurrently establish local embryonic retinoic acid levels which facilitate posterior organ development and prevent spina bifida. Four transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, May 2011]
Gene Info
Gene Group
Aldehyde dehydrogenases
Locus Type
gene with protein product
Location
15q21.3
Ensembl
ENSG00000128918
Associated Conditions (2)
Diaphragmatic hernia 4
with cardiovascular defects
Key Variants
All Variants (4)
RSID Category Clinical Significance Conditions
RS141245344 Health Risk Pathogenic Diaphragmatic hernia 4, with cardiovascular defects, Diaphragmatic hernia 4
RS2504834746 Health Risk Pathogenic Diaphragmatic hernia 4, with cardiovascular defects, Diaphragmatic hernia 4
RS2504837607 Health Risk Pathogenic Diaphragmatic hernia 4, with cardiovascular defects, Diaphragmatic hernia 4
RS749124508 Health Risk Pathogenic Diaphragmatic hernia 4, with cardiovascular defects, Diaphragmatic hernia 4
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