QuickView for PDE;jsessionid=A1FB58520ED4E05A075F4D1BC3EE85F6;jsessionid=A6FAB7E1C75BC32CACB4B7CA4FD285A6;jsessionid=FB25B4889D1AD10094AC9DB1B2343062 (gene)

Gene Symbol:

ALDH7A1 Homo sapiens

Full name:

aldehyde dehydrogenase 7 family member A1

Synonyms:

ATQ1, EPD, PDE, alpha-aminoadipic semialdehyde dehydrogenase, 26g turgor protein homolog, P6c dehydrogenase, alpha-AASA dehydrogenase, antiquitin-1, betaine aldehyde dehydrogenase, delta1-piperideine-6-carboxylate dehydrogenase

Genomic Location:

Chr 5: 125908344-125958839

Description:

The protein encoded by this gene is a member of subfamily 7 in the aldehyde dehydrogenase gene family. These enzymes are thought to play a major role in the detoxification of aldehydes generated by alcohol metabolism and lipid peroxidation. This particular member has homology to a previously described protein from the green garden pea, the 26g pea ...

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The protein encoded by this gene is a member of subfamily 7 in the aldehyde dehydrogenase gene family. These enzymes are thought to play a major role in the detoxification of aldehydes generated by alcohol metabolism and lipid peroxidation. This particular member has homology to a previously described protein from the green garden pea, the 26g pea turgor protein. It is also involved in lysine catabolism that is known to occur in the mitochondrial matrix. Recent reports show that this protein is found both in the cytosol and the mitochondria, and the two forms likely arise from the use of alternative translation initiation sites. An additional variant encoding a different isoform has also been found for this gene. Mutations in this gene are associated with pyridoxine-dependent epilepsy. Several related pseudogenes have also been identified.

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Orthologs:

Mus musculus ,  Rattus norvegicus ,  D. melanogaster ,  C. elegans ,  Macaca mulatta ,  Danio rerio ,  Gallus gallus ,  Pan troglodytes ,  Canis lupus familiaris ,  Bos taurus

External Links:

Entrez Gene

Transcription Factor
Binding Sites:

GGGCGGR_SP1_Q6

Cytogenetic Map:

5q23.2

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