NP_001154976.1
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NCBI GenBank Nucleotide #
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UniProt Primary Accession #
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UniProt Secondary Accession #
UniProt Related Accession #
Molecular Weight
56,043 Da
NCBI Official Full Name
delta-1-pyrroline-5-carboxylate dehydrogenase, mitochondrial isoform b
NCBI Official Synonym Full Names
aldehyde dehydrogenase 4 family, member A1
NCBI Protein Information
delta-1-pyrroline-5-carboxylate dehydrogenase, mitochondrial
UniProt Protein Name
Delta-1-pyrroline-5-carboxylate dehydrogenase, mitochondrial
UniProt Synonym Protein Names
Aldehyde dehydrogenase family 4 member A1; L-glutamate gamma-semialdehyde dehydrogenase
UniProt Synonym Gene Names
UniProt Entry Name
AL4A1_HUMAN
NCBI Summary for ALDH4A1
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]
UniProt Comments for ALDH4A1
ALDH4A1: Irreversible conversion of delta-1-pyrroline-5- carboxylate (P5C), derived either from proline or ornithine, to glutamate. This is a necessary step in the pathway interconnecting the urea and tricarboxylic acid cycles. The preferred substrate is glutamic gamma-semialdehyde, other substrates include succinic, glutaric and adipic semialdehydes. Defects in ALDH4A1 are the cause of hyperprolinemia type 2 (HP-2). HP-2 is characterized by the accumulation of delta-1-pyrroline-5-carboxylate (P5C) and proline. The disorder may be causally related to neurologic manifestations, including seizures and mental retardation. Belongs to the aldehyde dehydrogenase family. 2 isoforms of the human protein are produced by alternative splicing.
Protein type: Mitochondrial; Oxidoreductase; Amino Acid Metabolism - alanine, aspartate and glutamate; EC 1.2.1.88; Amino Acid Metabolism - arginine and proline
Chromosomal Location of Human Ortholog: 1p36
Cellular Component: mitochondrial matrix
Molecular Function: identical protein binding; aldehyde dehydrogenase (NAD) activity; electron carrier activity; 1-pyrroline-5-carboxylate dehydrogenase activity
Biological Process: 4-hydroxyproline catabolic process; proline catabolic process; proline biosynthetic process; glutamate biosynthetic process; proline catabolic process to glutamate; proline metabolic process
Disease: Hyperprolinemia, Type Ii
Research Articles on ALDH4A1
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Pathways associated with ALDH4A1 sirna
Diseases associated with ALDH4A1 sirna
Organs/Tissues associated with ALDH4A1 sirna
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