Aldehyde dehydrogenase 1 family, member A2, also known as ALDH1A2 or retinaldehyde dehydrogenase 2 (RALDH2), is an enzyme that in humans is encoded by the ALDH1A2gene.[1][2]
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 paracrine hormone signaling molecule that functions in developing and adult tissues.[3] The studies of a similar mouse gene suggest that this enzyme and the cytochrome CYP26A1, concurrently establish local embryonic retinoic acid levels that facilitate posterior organ development and prevent spina bifida. Three transcript variants encoding distinct isoforms have been identified for this gene.[2]
Wang X, Penzes P, Napoli JL (1996). "Cloning of a cDNA encoding an aldehyde dehydrogenase and its expression in Escherichia coli. Recognition of retinal as substrate". J. Biol. Chem. 271 (27): 16288–93. doi:10.1074/jbc.271.27.16288. PMID8663198.
Zhao D, McCaffery P, Ivins KJ, et al. (1996). "Molecular identification of a major retinoic-acid-synthesizing enzyme, a retinaldehyde-specific dehydrogenase". Eur. J. Biochem. 240 (1): 15–22. doi:10.1111/j.1432-1033.1996.0015h.x. PMID8797830.
Niederreither K, Subbarayan V, Dollé P, Chambon P (1999). "Embryonic retinoic acid synthesis is essential for early mouse post-implantation development". Nat. Genet. 21 (4): 444–8. doi:10.1038/7788. PMID10192400.
Niederreither K, Abu-Abed S, Schuhbaur B, et al. (2002). "Genetic evidence that oxidative derivatives of retinoic acid are not involved in retinoid signaling during mouse development". Nat. Genet. 31 (1): 84–8. doi:10.1038/ng876. PMID11953746.
Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID14702039.
Anderson NL, Polanski M, Pieper R, et al. (2004). "The human plasma proteome: a nonredundant list developed by combination of four separate sources". Mol. Cell. Proteomics. 3 (4): 311–26. doi:10.1074/mcp.M300127-MCP200. PMID14718574.
Deak KL, Dickerson ME, Linney E, et al. (2006). "Analysis of ALDH1A2, CYP26A1, CYP26B1, CRABP1, and CRABP2 in human neural tube defects suggests a possible association with alleles in ALDH1A2". Birth Defects Res. Part a Clin. Mol. Teratol. 73 (11): 868–75. doi:10.1002/bdra.20183. PMID16237707.
Ribes V, Wang Z, Dollé P, Niederreither K (2006). "Retinaldehyde dehydrogenase 2 (RALDH2)-mediated retinoic acid synthesis regulates early mouse embryonic forebrain development by controlling FGF and sonic hedgehog signaling". Development. 133 (2): 351–61. doi:10.1242/dev.02204. PMID16368932.