QuickView for ALDH4A1 (gene)

Gene Symbol:

ALDH4A1 Homo sapiens

Full name:

aldehyde dehydrogenase 4 family member A1

Synonyms:

ALDH4, P5CD, P5CDh, delta-1-pyrroline-5-carboxylate dehydrogenase, mitochondrial, L-glutamate gamma-semialdehyde dehydrogenase, P5C dehydrogenase, aldehyde dehydrogenase family 4 member A1, mitochondrial delta-1-pyrroline 5-carboxylate dehydrogenase

Genomic Location:

Chr 1: 19070513-19101659

Description:

This protein belongs to the aldehyde dehydrogenase family of proteins. This enzyme is a mitochondrial matrix NAD-dependent dehydrogenase which catalyzes the second step of the proline degradation pathway, converting pyrroline-5-carboxylate to glutamate. Deficiency of this enzyme is associated with type II hyperprolinemia, an autosomal recessive dis...

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This protein belongs to the aldehyde dehydrogenase family of proteins. This enzyme is a mitochondrial matrix NAD-dependent dehydrogenase which catalyzes the second step of the proline degradation pathway, converting pyrroline-5-carboxylate to glutamate. Deficiency of this enzyme is associated with type II hyperprolinemia, an autosomal recessive disorder characterized by accumulation of delta-1-pyrroline-5-carboxylate (P5C) and proline. Alternatively spliced transcript variants encoding different isoforms have been identified for this gene.

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Orthologs:

Mus musculus ,  Rattus norvegicus ,  D. melanogaster ,  C. elegans ,  Saccharomyces cerevisiae ,  Macaca mulatta ,  Bos taurus ,  Schizosaccharomyces pombe ,  Danio rerio ,  Gallus gallus ,  Canis lupus familiaris

External Links:

Entrez Gene

Transcription Factor
Binding Sites:

GATTGGY_NFY_Q6_01 ,  RTAAACA_FREAC2_01 ,  SMAD3_Q6 ,  GGGAGGRR_MAZ_Q6 ,  TATAAA_TATA_01 ,  CAGGTA_AREB6_01 ,  NFY_Q6 ,  GATA4_Q3 ,  MZF1_02

Cytogenetic Map:

1p36.13

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