ALDH4A1, Official Symbol ALDH4A1provided by HGNC Official Full Name aldehyde dehydrogenase 4 family member A1provided by HGNC Primary source HGNC:HGNC:406 See related Ensembl:ENSG00000159423 MIM:606811; AllianceGenome:HGNC:406 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as P5CD; ALDH4; P5CDh Summary 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] Expression Biased expression in kidney (RPKM 122.2), liver (RPKM 68.8) and 8 other tissues See more Orthologs mouse all