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.

WB 1:500 - 1:2000
IF 1:50 - 1:200

Recombinant fusion protein containing a sequence corresponding to amino acids 354-563 of human ALDH4A1 (NP_003739.2).

Unmodified

-20°C