Aldehyde dehydrogenase 4 family, member A1 explained

Delta-1-pyrroline-5-carboxylate dehydrogenase, mitochondrial is an enzyme that in humans is encoded by the ALDH4A1 gene.^{[1] [2]}

This protein belongs to the aldehyde dehydrogenase family of proteins. This enzyme is a mitochondrial matrix NAD-dependent dehydrogenase that catalyzes the second step of the proline degradation pathway, converting pyrroline-5-carboxylate to glutamate. Deficiency of this enzyme is associated with type II hyperprolinemia, an autosomal recessive disorder characterized by accumulation of delta-1-pyrroline-5-carboxylate (P5C) and proline. Two transcript variants encoding the same protein have been identified for this gene.^[3]

External links

• • PDBe-KB provides an overview of all the structure information available in the PDB for Human Delta-1-pyrroline-5-carboxylate dehydrogenase, mitochondrial (ALDH4A1)
• PDBe-KB provides an overview of all the structure information available in the PDB for Mouse Delta-1-pyrroline-5-carboxylate dehydrogenase, mitochondrial (ALDH4A1)

Further reading

• Valle D, Goodman SI, Harris SC, Phang JM . Genetic evidence for a common enzyme catalyzing the second step in the degradation of proline and hydroxyproline . J. Clin. Invest. . 64 . 5 . 1365–70 . 1980 . 500817 . 371284 . 10.1172/JCI109593 .
• Hochstrasser DF, Frutiger S, Paquet N . Human liver protein map: a reference database established by microsequencing and gel comparison . Electrophoresis . 13 . 12 . 992–1001 . 1993 . 1286669 . 10.1002/elps.11501301201 . 23518983 . etal.
• Goodman SI, Mace JW, Miles BS . Defective hydroxyproline metabolism in type II hyperprolinemia . Biochemical Medicine . 10 . 4 . 329–36 . 1974 . 4851275 . 10.1016/0006-2944(74)90036-2 . etal.
• Maruyama K, Sugano S . Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides . Gene . 138 . 1–2 . 171–4 . 1994 . 8125298 . 10.1016/0378-1119(94)90802-8 .
• Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K . Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library . Gene . 200 . 1–2 . 149–56 . 1997 . 9373149 . 10.1016/S0378-1119(97)00411-3 . etal.
• Geraghty MT, Vaughn D, Nicholson AJ . Mutations in the Delta1-pyrroline 5-carboxylate dehydrogenase gene cause type II hyperprolinemia . Hum. Mol. Genet. . 7 . 9 . 1411–5 . 1998 . 9700195 . 10.1093/hmg/7.9.1411 . etal. free .
• Strausberg RL, Feingold EA, Grouse LH . Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences . Proc. Natl. Acad. Sci. U.S.A. . 99 . 26 . 16899–903 . 2003 . 12477932 . 139241 . 10.1073/pnas.242603899 . 2002PNAS...9916899M . etal. free .
• Twizere JC, Kruys V, Lefèbvre L . Interaction of retroviral Tax oncoproteins with tristetraprolin and regulation of tumor necrosis factor-alpha expression . J. Natl. Cancer Inst. . 95 . 24 . 1846–59 . 2004 . 14679154 . 10.1093/jnci/djg118. etal. 10.1.1.556.6156 .
• Yoon KA, Nakamura Y, Arakawa H . Identification of ALDH4 as a p53-inducible gene and its protective role in cellular stresses . J. Hum. Genet. . 49 . 3 . 134–40 . 2004 . 14986171 . 10.1007/s10038-003-0122-3 . free .
• Gerhard DS, Wagner L, Feingold EA . The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC) . Genome Res. . 14 . 10B . 2121–7 . 2004 . 15489334 . 528928 . 10.1101/gr.2596504 . etal.
• Gregory SG, Barlow KF, McLay KE . The DNA sequence and biological annotation of human chromosome 1 . Nature . 441 . 7091 . 315–21 . 2006 . 16710414 . 10.1038/nature04727 . 2006Natur.441..315G . etal. free .

Notes and References

1. Hu CA, Lin WW, Valle D . Cloning, characterization, and expression of cDNAs encoding human delta 1-pyrroline-5-carboxylate dehydrogenase . J Biol Chem . 271 . 16 . 9795–800 . Jun 1996 . 8621661 . 10.1074/jbc.271.16.9795 . free .
2. Web site: Entrez Gene: ALDH4A1 aldehyde dehydrogenase 4 family, member A1.
3. Web site: Entrez Gene: ALDH4A1 aldehyde dehydrogenase 4 family, member A1.