別 名: aldehyde dehydrogenase 4 family, member A1; P5CD; ALDH4; P5C
概 述:
Full name: |
aldehyde dehydrogenase 4 family, member A1 |
Synonyms: |
P5CD; ALDH4; P5C |
Swissprot: |
P30038 |
Gene Accession: |
BC007581 |
Purity: |
>85%, as determined by Coomassie blue stained SDS-PAGE |
Expression system: |
Escherichia coli |
Tags: |
His tag C-Terminus, GST tag N-Terminus |
Background: |
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. |
