ALDH4A1

ALDH4A1 is a member of the aldehyde dehydrogenase family. Aldehyde dehydrogenase enzymes function in the metabolism of many molecules including certain fats (cholesterol and other fatty acids) and protein building blocks (amino acids). Additional aldehyde dehydrogenase enzymes detoxify external substances, such as alcohol and pollutants, and internal substances, such as toxins that are formed within cells. ALDH4A1 is expressed abundantly in liver followed by skeletal muscle, kidney, heart, brain, placenta, lung and pancreas. It is a mitochondrial matrix NAD-dependent dehydrogenase which catalyzes the second step of the proline degradation pathway, converting pyrroline-5-carboxylate to glutamate. 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.

ALDH4A1 Related Areas

Enzyme>>Other>> ALDH4A1

ALDH4A1 Alternative Names

RP11-128M10.1, ALDH4, P5CD, P5CDh, P5C dehydrogenase, aldehyde dehydrogenase family 4 member A1, delta-1-pyrroline-5-carboxylate dehydrogenase, mitochondrial, mitochondrial delta-1-pyrroline 5-carboxylate dehydrogenase [Homo sapiens]

RP23-334I5.1, A930035F14Rik, Ahd-1, Ahd1, Aldh4, Aldh5a1, E330022C09, P5cd, P5cdh, P5cdhl, P5cdhs, Ssdh1, P5C dehydrogenase, aldehyde dehydrogenase family 4 member A1, delta-1-pyrroline-5-carboxylate dehydrogenase, mitochondrial [Mus musculus]

Summaries for ALDH4A1

Entrez Gene summary for ALDH4A1:

This ALDH4A1 protein belongs to the aldehyde dehydrogenase family of proteins. This ALDH4A1 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 ALDH4A1 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]

OMIM - description for ALDH4A1:

Pyrroline-5-carboxylate dehydrogenase (P5CDH; EC 1.5.1.12) is a mitochondrial matrix NAD(+)-dependent dehydrogenase which catalyzes the second step of the proline degradation pathway, converting pyrroline-5-carboxylate to glutamate.

Wikipedia summary for ALDH4A1:

Delta-1-pyrroline-5-carboxylate dehydrogenase, mitochondrial is an enzyme that in humans is encoded by the ALDH4A1 gene.

Human ALDH4A1 Protein General Information

 

• Protein names	Aldehyde dehydrogenase family 4 member A1
  Sequence length	563 AA.
  Catalytic activity	(S)-1-pyrroline-5-carboxylate + NAD(P)+ + 2 H2O = L-glutamate + NAD(P)H.
  Sequence similarities:	ALDH4A1 belongs to the aldehyde dehydrogenase family.
  Pathway:	Amino-acid degradation; L-proline degradation into L-glutamate; L-glutamate from L-proline: step 2/2.
  Subunit structure	Homodimer.
  Subcellular location:	Mitochondrion matrix.
  Tissue specificity	Highest expression is found in liver followed by skeletal muscle, kidney, heart, brain, placenta, lung and pancreas.
  Involvement in disease:	Defects in ALDH4A1 are the cause of hyperprolinemia type 2 (HP-2) [MIM:239510]. 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.

General information above from UniProt

Function for ALDH4A1 Protein

UniProtKB:

ALDH4A is 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.

Genatlas:

• oxydoreductase
• ALDH4A1 is aldehyde dehydrogenase 4 (glutamate gamma-semialdehyde dehydrogenase; pyrroline-5-carboxylate dehydrogenase)
• ALDH4A1 converts proline or ornithine to glutamate

Homology for human ALDH4A1

• homolog to murine Aldh4a1

Phenotype Information for ALDH4A1

• Gene/Locus: ALDH4A1, ALDH4, P5CDH
• Phenotype: Hyperprolinemia, type II

Phenotype Information for ALDH4A1 from OMIM (Online Mendelian Inheritance in Man)