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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
aldehyde dehydrogenase 5 family member A1
Summary
- Gene Symbol
-
- ALDH5A1
- Aliases
-
- SSADH
- SSDH
- succinate-semialdehyde dehydrogenase
- Organism
- Homo sapiens (human)
Annotation
- Keyword
-
- 3D-structure
- Acetylation
- Alternative splicing
- Disease variant
- Disulfide bond
- Mitochondrion
- NAD
- Oxidoreductase
- Phosphoprotein
- Reference proteome
- Transit peptide
- Proteins
Gene Ontology (GO)
| GO Term | Evidence Code | PMID |
|---|---|---|
| synaptic transmission, GABAergic | ||
| succinate metabolic process | ||
| central nervous system development | ||
| post-embryonic development | ||
| glutamate metabolic process |
GO Hierarchy
| GO Term | Evidence Code | PMID |
|---|---|---|
| synapse | ||
| mitochondrial matrix |
|
|
| mitochondrion |
GO Hierarchy
| GO Term | Evidence Code | PMID |
|---|---|---|
| succinate-semialdehyde dehydrogenase (NAD+) activity | ||
| identical protein binding |
GO Hierarchy
Human Protein Atlas
Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.
KEGG BRITE Database
Rhea
Disease
- Disease Ontology
| DO ID | Disease Name | Source |
|---|---|---|
| DOID:0050589 | inflammatory bowel disease | |
| DOID:0050835 | generalized dystonia | |
| DOID:0050836 | focal dystonia | |
| DOID:0050841 | focal hand dystonia | |
| DOID:0060170 | generalized epilepsy with febrile seizures plus | |
| DOID:0060175 | succinic semialdehyde dehydrogenase deficiency | |
| DOID:0060192 | Crohn's colitis | |
| DOID:0060478 | Zika fever | |
| DOID:0060730 | torsion dystonia 1 | |
| DOID:0060823 | syndromic X-linked intellectual disability 94 |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000007 | Autosomal recessive inheritance |
| HP:0000496 | Abnormality of eye movement |
| HP:0000708 | Atypical behavior |
| HP:0000709 | Psychosis |
| HP:0000717 | Autism |
| HP:0000718 | Aggressive behavior |
| HP:0000738 | Hallucinations |
| HP:0000739 | Anxiety |
| HP:0000750 | Delayed speech and language development |
| HP:0000752 | Hyperactivity |
| Disease ID | Disease Name |
|---|---|
| OMIM:271980 |
|
| ORPHA:22 |
|
PubChem Disease
- GHR Health Conditions
- MedGen Diseases
- OMIM Phenotypes
- KEGG Diseases
Ortholog
| Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
|---|---|---|---|
| 174991 | WB:WBGene00000113 | ||
| 43092 | FB:FBgn0039349 | ||
| 102345816 | LATCH02059 | ||
| 565235 | ZFIN:ZDB-GENE-070228-2 | DANRE10688 | |
| 108270702 | ICTPU14417 | ||
| 113572513 | ELEEL03609 | ||
| 106605473 | SALSA124498 | ||
| 115179688 | SALTR43568 | ||
| 115545116 | GADMO51264 | ||
| 100695178 | ORENI01879 |
