aldehyde dehydrogenase 7 family, member A1 (alpha-aminoadipic semialdehyde dehydrogenase, alpha-AASA dehydrogenase, delta1-piperideine-6-carboxylate dehydrogenease, P6c dehydrogenaseantiquitin-1, ALDH7A1, ATQ1)

Function

-..........-

L-2-aminoadipate 6-semialdehyde + NAD+/NADP+ + H2O
           <-->
L-2-aminoadipate + NADH/NADPH

Structure

• homotetramer (putative)
• homologous to 26g pea turgor protein
• belongs to the aldehyde dehydrogenase family

Expression

• abundant in hepatoma cells & fetal cochlea, ovary, eye, heart, adrenal gland, liver & kidney
• low levels present in adult peripheral blood leukocytes & fetal brain, thymus, spleen, skeletal muscle, lung & tongue

Pathology

• defects in ALDH7A1 are the cause of pyridoxine-dependent epilepsy

More general terms

• aldehyde dehydrogenase

Database

• UniProt: http://www.uniprot.org/uniprot/P49419.html
• Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:501
• OMIM: https://mirror.omim.org/entry/107323
• OMIM: https://mirror.omim.org/entry/266100
• Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=501