Aldehyde dehydrogenase 4 family, member A1

ALDH4A1
Available structures
PDB	Ortholog search: PDBe RCSB
List of PDB id codes
	3V9G, 3V9H, 3V9I, 4OE5
Identifiers
Aliases	ALDH4A1, ALDH4, P5CD, P5CDh, Aldehyde dehydrogenase 4 family, member A1, aldehyde dehydrogenase 4 family member A1
External IDs	OMIM: 606811; MGI: 2443883; HomoloGene: 6081; GeneCards: ALDH4A1; OMA:ALDH4A1 - orthologs
Gene location (Human)
Chr.	Chromosome 1 (human)
End	18,902,724 bp
Gene location (Mouse)
Chr.	Chromosome 4 (mouse)
End	139,377,001 bp
RNA expression pattern
	Top expressed in
	right lobe of liver; ; kidney tubule; ; human kidney; ; muscle of thigh; ; gastrocnemius muscle; ; putamen; ; Amygdala; ; caudate nucleus; ; right frontal lobe; ; cingulate gyrus;
	Top expressed in
	right kidney; ; left lobe of liver; ; human kidney; ; proximal tubule; ; muscle of thigh; ; lip; ; right ventricle; ; skeletal muscle tissue; ; triceps brachii muscle; ; granulocyte;
	More reference expression data
	; ;
	More reference expression data
Gene ontology
Molecular function	electron transfer activity; 1-pyrroline-5-carboxylate dehydrogenase activity; oxidoreductase activity; aldehyde dehydrogenase (NAD+) activity; identical protein binding; oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor;
Cellular component	mitochondrial matrix; mitochondrion;
Biological process	metabolism; 4-hydroxyproline catabolic process; proline catabolic process to glutamate; proline catabolic process; proline metabolic process; glyoxylate metabolic process; electron transport chain;
	Sources:Amigo / QuickGO
Orthologs
	8659
	212647
	ENSG00000159423
	ENSMUSG00000028737
	P30038
	Q8CHT0
	NM_001161504; NM_003748; NM_170726; NM_001319218
	NM_175438
	NP_001154976; NP_001306147; NP_003739; NP_733844
	NP_780647
	Wikidata
View/Edit Human	View/Edit Mouse

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

This protein belongs to the aldehyde dehydrogenase family of proteins. This enzyme is a mitochondrial matrix NAD-dependent dehydrogenase that 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. Two transcript variants encoding the same protein have been identified for this gene.