{"symbol":"ALDH4A1","synonyms":["P5CD","P5CDH"],"name":"aldehyde dehydrogenase 4 family, member A1","description":"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]","ncbiEntrezGeneId":8659,"ncbiEntrezGeneUrl":"http://www.ncbi.nlm.nih.gov/gene/8659","proteins":[{"symbol":"AL4A1_HUMAN","href":"/api/1.0/protein/AL4A1_HUMAN"}],"hgncRootFamilies":[{"name":"Aldehyde dehydrogenases (ALDH)","href":"/api/1.0/gene_family/Aldehyde+dehydrogenases+%28ALDH%29"}]}