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Gene Protein Transcript Promoter Expression GO/PPI PubMed Cross reference

Gene information for ALDH4A1 (Homo sapiens)
(Information is obtained from NCBI Gene database)
Entrez gene ID8659
Official gene symbolALDH4A1
Full namealdehyde dehydrogenase 4 family, member A1
Aliases,ALDH4,DKFZp779M035,P5CD,P5CDh,
Gene summaryThis 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]
LocationChromosome: 1   Locus: 1p36
Gene position19229293 - 19197924  Map Viewer
Gene orientationminus
Gene size31370 bp
Gene sequence
OMIM ID606811