ALDH7A1

GENE INFORMATION

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Gene name

ALDH7A1 (HGNC Symbol)

Synonyms

ATQ1, EPD, PDE

Description

aldehyde dehydrogenase 7 family, member A1 (HGNC Symbol)

Entrez gene summary

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. [provided by RefSeq, Jan 2011]

Chromosome

5 (Chromosome progress)

Cytoband

q23.2

Chromosome location (bp)

125877533 - 125931110

Ensembl

ENSG00000164904 (version 73.37)

Entrez gene

501

UniProt

P49419 (UniProt - Evidence at protein level)

neXtProt

NX_P49419

Antibodypedia

ALDH7A1 antibodies
 

PROTEIN VIEW

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ALDH7A1-001
 
ALDH7A1-002
 
ALDH7A1-004
 
ALDH7A1-015
 
ALDH7A1-016
 
ALDH7A1-017
 
ALDH7A1-201
 
 
 
 
 

PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

ALDH7A1-001 ENSP00000387123
ENST00000409134
P49419
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Show » Show » 539 58.5 No 0
ALDH7A1-002 ENSP00000414536
ENST00000412186
F8WDY6
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Show » 77 8.8 No 0
ALDH7A1-004 ENSP00000403929
ENST00000458249
F8WD33
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97 11 No 0
ALDH7A1-015 ENSP00000449318
ENST00000509270
F8VVF2
Show all »
Show » 141 15.5 No 0
ALDH7A1-016 ENSP00000447388
ENST00000510111
H0YHM6
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Show » Show » 240 26 No 0
ALDH7A1-017 ENSP00000448593
ENST00000553117
F8VS02
Show all »
Show » Show » 475 51.4 No 0
ALDH7A1-201 ENSP00000414132
ENST00000447989
P49419
Show all »
Show » Show » 502 54 No 0