ALDH1A2
Function
Catalyzes the NAD-dependent oxidation of aldehyde substrates, such as all-trans-retinal and all-trans-13,14-dihydroretinal, to their corresponding carboxylic acids, all-trans-retinoate and all-trans-13,14-dihydroretinoate, respectively (PubMed:29240402, PubMed:33565183). Retinoate signaling is critical for the transcriptional control of many genes, for instance it is crucial for initiation of meiosis in both male and female (Probable) (PubMed:33565183). Recognizes retinal as substrate, both in its free form and when bound to cellular retinol-binding protein (By similarity). Can metabolize octanal and decanal, but has only very low activity with benzaldehyde, acetaldehyde and propanal (By similarity). Displays complete lack of activity with citral (By similarity).
Involvement in disease
Diaphragmatic hernia 4, with cardiovascular defects
DIH4
An autosomal recessive form of congenital diaphragmatic hernia, a posterolateral defect of the diaphragm, generally located on the left side, that permits the herniation of abdominal viscera into the thorax. The lungs are hypoplastic and have abnormal vessels that cause respiratory insufficiency and persistent pulmonary hypertension with high mortality. About one third of cases have cardiovascular malformations and lesser proportions have skeletal, neural, genitourinary, gastrointestinal or other defects.
None
The disease is caused by variants affecting the gene represented in this entry.
Pathway
Cofactor metabolism; retinol metabolism.
Sequence Similarities
Belongs to the aldehyde dehydrogenase family.
Cellular localization
- Cytoplasm
Alternative names
RALDH2, ALDH1A2, Retinal dehydrogenase 2, RALDH 2, RalDH2, Aldehyde dehydrogenase family 1 member A2, Retinaldehyde-specific dehydrogenase type 2, RALDH(II)