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. [provided by RefSeq, Jun 2009]
| SKU | Test Kits | Buffer | Dye Color | Order Now |
|---|---|---|---|---|
| ALDH4A1-20-RE | 20 (40 μL) | 200 μL |  |
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| ALDH4A1-20-OR | 20 (40 μL) | 200 μL |  |
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| ALDH4A1-20-GO | 20 (40 μL) | 200 μL |  |
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| ALDH4A1-20-GR | 20 (40 μL) | 200 μL |  |
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| ALDH4A1-20-AQ | 20 (40 μL) | 200 μL |  |
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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. [provided by RefSeq, Jun 2009]
Gene Symbol : ALDH4A1
Gene Name : Aldehyde dehydrogenase 4 family member A1
Chromosome : CHR 1: 189,027,98-188,714,29
Locus : 1p36.13
Alt. Genes : LRPPRC
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