Metazoan complexes |
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Details of ALDH4A1 gene in Homo sapiens
IDs | |||||||||
---|---|---|---|---|---|---|---|---|---|
Link outs | Gene Name | Alias | Uniprot ID | SwissProt ID | NCBI gene ID | ENSEMBL ID | Description | Source | |
| ALDH4A1 | ALDH4,P5CDH | P30038 | AL4A1_HUMAN | 8659 | ENSG00000159423 | Delta-1-pyrroline-5-carboxylate dehydrogenase, mitochondrial | SPROT |
Disease | |||||||||
---|---|---|---|---|---|---|---|---|---|
Disease | OMIM id | ||||||||
Hyperprolinemia 2 (HP-2) [MIM:239510]: 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. Note=The disease is caused by mutations affecting the gene represented in this entry. | 239510 |
Phenotypes
Abnormality of amino acid metabolism, Abnormality of carboxylic acid metabolism, Abnormality of glutamine family amino acid metabolism, Abnormality of glycine metabolism, Abnormality of higher mental function, Abnormality of metabolism/homeostasis, Abnormality of proline metabolism, Abnormality of serine family amino acid metabolism, Abnormality of the central nervous system, Abnormality of the genitourinary system, Abnormality of the nervous system, Abnormality of the urinary system, Abnormality of the urinary system physiology, Abnormality of urine homeostasis, Aciduria, All, Aminoaciduria, Autosomal recessive inheritance, Cognitive impairment, Hydroxyprolinuria, Hyperglycinuria, Hyperprolinemia, Intellectual disability, Mode of inheritance, Phenotypic abnormality, Prolinuria, Seizures.
Orthologs in other species | |||||||||
---|---|---|---|---|---|---|---|---|---|
M. musculus | D. melonogaster | C. elegans | S. purpuratus | ||||||
Aldh4a1 | P5CDh1 | alh-6 | Sp-Aldh4a1 |
Conserved gene 1 |
Conserved gene 2 |
Conserved score |
H. sapiens gene 1 |
H. sapiens gene 2 |
Complex ID | Corum | BioGrid | IRefWeb | Novelty |
---|---|---|---|---|---|---|---|---|---|
ALDH4A1 | GOT1 | 0.22811362 | ALDH4A1 | GOT1 | cpx5 | no | no | no | Novel |
SOD2 | ALDH4A1 | 0.221092912 | SOD2 | ALDH4A1 | cpx5 | no | no | no | Novel |
ADSS | ALDH4A1 | 0.048505896 | ADSS | ALDH4A1 | cpx5 | no | no | no | Novel |
CFL2 | ALDH4A1 | 0.322456657 | CFL2 | ALDH4A1 | cpx5; cpx250 | no | no | no | Novel |
CFL1 | ALDH4A1 | 0.280838125 | CFL1 | ALDH4A1 | cpx157; cpx5 | no | no | no | Novel |
DAZAP1 | ALDH4A1 | 0.033692364 | DAZAP1 | ALDH4A1 | cpx5 | no | no | no | Novel |
LDHB | ALDH4A1 | 0.113557263 | LDHB | ALDH4A1 | cpx5 | no | no | no | Novel |
DSTN | ALDH4A1 | 0.354896801 | DSTN | ALDH4A1 | cpx250; cpx5 | no | no | no | Novel |
TKT | ALDH4A1 | 0.160139595 | TKT | ALDH4A1 | cpx5 | no | no | no | Novel |
ALDH4A1 | HSPE1 | 0.042315585 | ALDH4A1 | HSPE1 | cpx157 | no | no | no | Novel |
ALDH4A1 | GPX4 | 0.033392878 | ALDH4A1 | GPX4 | cpx5 | no | no | no | Novel |
ALDH4A1 | AHCY | 0.079014991 | ALDH4A1 | AHCY | cpx5 | no | no | no | Novel |
Conserved gene 1 |
Conserved gene 2 |
Conserved score |
H. sapiens gene 1 |
H. sapiens gene 2 |
---|---|---|---|---|
LDHA | ALDH4A1 | 0.119099799 | LDHA | ALDH4A1 |
ADH5 | ALDH4A1 | 0.076317022 | ADH5 | ALDH4A1 |
ALDH4A1 | ENO3 | 0.165974383 | ALDH4A1 | ENO3 |
ALDH4A1 | ESD | 0.130934035 | ALDH4A1 | ESD |
GPI | ALDH4A1 | 0.093288789 | GPI | ALDH4A1 |
ALDH6A1 | ALDH4A1 | 0.18164609 | ALDH6A1 | ALDH4A1 |
ALDH4A1 | ENO1 | 0.185624305 | ALDH4A1 | ENO1 |
LDHAL6B | ALDH4A1 | 0.095245025 | LDHAL6B | ALDH4A1 |
LDHAL6A | ALDH4A1 | 0.107345286 | LDHAL6A | ALDH4A1 |
ALDH4A1 | PGM2 | 0.072239563 | ALDH4A1 | PGM2 |