ALDH18A1

From Wikipedia, the free encyclopedia

Aldehyde dehydrogenase 18 family, member A1

PDB rendering based on 2h5g.

Available structures: 2h5g

Identifiers

Symbol(s)

ALDH18A1; GSAS; MGC117316; P5CS; PYCS

External IDs

OMIM: 138250 MGI: 1888908 HomoloGene: 2142

Gene ontology
Molecular Function:	• N-acetyl-gamma-glutamyl-phosphate reductase activity • glutamate 5-kinase activity • glutamate-5-semialdehyde dehydrogenase activity • kinase activity • oxidoreductase activity • transferase activity
Cellular Component:	• cytoplasm • mitochondrion • membrane
Biological Process:	• proline biosynthetic process • amino acid biosynthetic process

RNA expression pattern

More reference expression data

Orthologs

Human

Mouse

Refseq

NM_001017423 (mRNA)
NP_001017423 (protein)

NM_019698 (mRNA)
NP_062672 (protein)

Location

Chr 10: 97.36 - 97.41 Mb

Chr 19: 40.6 - 40.64 Mb

Pubmed search

[1]

[2]

Aldehyde dehydrogenase 18 family, member A1, also known as ALDH18A1, is a human gene.^[1]

This gene is a member of the aldehyde dehydrogenase family and encodes a bifunctional ATP- and NADPH-dependent mitochondrial enzyme with both gamma-glutamyl kinase and gamma-glutamyl phosphate reductase activities. The encoded protein catalyzes the reduction of glutamate to delta1-pyrroline-5-carboxylate, a critical step in the de novo biosynthesis of proline, ornithine and arginine. Mutations in this gene lead to hyperammonemia, hypoornithinemia, hypocitrullinemia, hypoargininemia and hypoprolinemia and may be associated with neurodegeneration, cataracts and connective tissue diseases. Alternatively spliced transcript variants, encoding different isoforms, have been described for this gene.^[1]

[edit] References

^ ^a ^b Entrez Gene: ALDH18A1 aldehyde dehydrogenase 18 family, member A1.

[edit] Further reading

Maruyama K, Sugano S (1994). "Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides.". Gene 138 (1-2): 171-4. PMID 8125298.
Aral B, Schlenzig JS, Liu G, Kamoun P (1996). "Database cloning human delta 1-pyrroline-5-carboxylate synthetase (P5CS) cDNA: a bifunctional enzyme catalyzing the first 2 steps in proline biosynthesis.". C. R. Acad. Sci. III, Sci. Vie 319 (3): 171-8. PMID 8761662.
Liu G, Maunoury C, Kamoun P, Aral B (1997). "Assignment of the human gene encoding the delta 1-pyrroline-5-carboxylate synthetase (P5CS) to 10q24.3 by in situ hybridization.". Genomics 37 (1): 145-6. doi:10.1006/geno.1996.0535. PMID 8921385.
Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, et al. (1997). "Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library.". Gene 200 (1-2): 149-56. PMID 9373149.
Hu CA, Lin WW, Obie C, Valle D (1999). "Molecular enzymology of mammalian Delta1-pyrroline-5-carboxylate synthase. Alternative splice donor utilization generates isoforms with different sensitivity to ornithine inhibition.". J. Biol. Chem. 274 (10): 6754-62. PMID 10037775.
Baumgartner MR, Hu CA, Almashanu S, et al. (2001). "Hyperammonemia with reduced ornithine, citrulline, arginine and proline: a new inborn error caused by a mutation in the gene encoding delta(1)-pyrroline-5-carboxylate synthase.". Hum. Mol. Genet. 9 (19): 2853-8. PMID 11092761.
Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "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. doi:10.1073/pnas.242603899. PMID 12477932.
Deloukas P, Earthrowl ME, Grafham DV, et al. (2004). "The DNA sequence and comparative analysis of human chromosome 10.". Nature 429 (6990): 375-81. doi:10.1038/nature02462. PMID 15164054.
Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).". Genome Res. 14 (10B): 2121-7. doi:10.1101/gr.2596504. PMID 15489334.
Baumgartner MR, Rabier D, Nassogne MC, et al. (2005). "Delta1-pyrroline-5-carboxylate synthase deficiency: neurodegeneration, cataracts and connective tissue manifestations combined with hyperammonaemia and reduced ornithine, citrulline, arginine and proline.". Eur. J. Pediatr. 164 (1): 31-6. doi:10.1007/s00431-004-1545-3. PMID 15517380.