Your search for "aldh4a1" returned 403 TaqMan® SNP Genotyping Assays
aldehyde dehydrogenase 4 family member A1
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]
A930035F14RIK, AHD-1, AHD1, ALDH4, ALDH4A1, ALDH5A1, E330022C09, P5CD, P5CDH, P5CDHL, P5CDHS, SSDH1
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