ALDH6A1

From Wikipedia, the free encyclopedia

Aldehyde dehydrogenase 6 family, member A1

Identifiers

ALDH6A1; MGC40271; MMSADHA; MMSDH

External IDs

OMIM: 603178 MGI: 1915077 HomoloGene: 4082

Gene ontology
Molecular Function:	• acyl-CoA binding • methylmalonate-semialdehyde dehydrogenase (acylating) activity • oxidoreductase activity • malonate-semialdehyde dehydrogenase (acetylating) activity
Cellular Component:	• mitochondrion
Biological Process:	• pyrimidine nucleotide metabolic process • valine metabolic process • metabolic process • thymine metabolic process

RNA expression pattern

More reference expression data

Orthologs

Human

Mouse

n/a

Refseq

NM_005589 (mRNA)
NP_005580 (protein)

NM_134042 (mRNA)
NP_598803 (protein)

Location

Chr 14: 73.6 - 73.62 Mb

Chr 12: 85.32 - 85.34 Mb

Pubmed search

[1]

[2]

Aldehyde dehydrogenase 6 family, member A1, also known as ALDH6A1, is a human gene.^[1]

This protein belongs to the aldehyde dehydrogenases family of proteins. This enzyme plays a role in the valine and pyrimidine catabolic pathways. The product of this gene, a mitochondrial methylmalonate semialdehyde dehydrogenase, catalyzes the irreversible oxidative decarboxylation of malonate and methylmalonate semialdehydes to acetyl- and propionyl-CoA. Methylmalonate semialdehyde dehydrogenase deficiency is characterized by elevated beta-alanine, 3-hydroxypropionic acid, and both isomers of 3-amino and 3-hydroxyisobutyric acids in urine organic acids.^[1]

[edit] References

^ ^a ^b Entrez Gene: ALDH6A1 aldehyde dehydrogenase 6 family, member A1.

[edit] Further reading

Kuiper H, Spötter A, Williams JL, et al. (2005). "Physical mapping of CHX10, ALDH6A1, and ABCD4 on bovine chromosome 10q34.". Cytogenet. Genome Res. 109 (4): 533. PMID 15909363.
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.
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. PMID 14718574.
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.
Chambliss KL, Gray RG, Rylance G, et al. (2001). "Molecular characterization of methylmalonate semialdehyde dehydrogenase deficiency.". J. Inherit. Metab. Dis. 23 (5): 497–504. PMID 10947204.
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.
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.
Kedishvili NY, Popov KM, Rougraff PM, et al. (1992). "CoA-dependent methylmalonate-semialdehyde dehydrogenase, a unique member of the aldehyde dehydrogenase superfamily. cDNA cloning, evolutionary relationships, and tissue distribution.". J. Biol. Chem. 267 (27): 19724–9. PMID 1527093.