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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
aldehyde dehydrogenase 3 family member A2
Summary
- Gene Symbol
-
- ALDH3A2
- Aliases
-
- FALDH
- fatty aldehyde dehydrogenase
- Organism
- Homo sapiens (human)
Annotation
- Keyword
-
- 3D-structure
- Alternative splicing
- Direct protein sequencing
- Disease variant
- Fatty acid metabolism
- Ichthyosis
- Intellectual disability
- Microsome
- NAD
- Oxidoreductase
- Phosphoprotein
- Reference proteome
- Transmembrane helix
- Proteins
| UniProt | Protein Name |
|---|---|
| P51648 |
|
Gene Ontology (GO)
| GO Term | Evidence Code | PMID |
|---|---|---|
| fatty acid metabolic process | ||
| peripheral nervous system development | ||
| phytol metabolic process | ||
| hexadecanal metabolic process | ||
| central nervous system development |
| GO Term | Evidence Code | PMID |
|---|---|---|
| intracellular membrane-bounded organelle | ||
| cytosol |
|
|
| cytoplasm | ||
| endoplasmic reticulum membrane |
|
|
| peroxisomal membrane |
|
GO Hierarchy
| GO Term | Evidence Code | PMID |
|---|---|---|
| medium-chain-aldehyde dehydrogenase activity | ||
| long-chain-aldehyde dehydrogenase activity | ||
| protein homodimerization activity | ||
| long-chain-alcohol oxidase activity | ||
| glyceraldehyde-3-phosphate dehydrogenase (NAD+) (non-phosphorylating) activity |
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:0050572 | cone-rod dystrophy | |
| DOID:0050576 | Senior-Loken syndrome | |
| DOID:0050635 | alternating hemiplegia of childhood | |
| DOID:0060216 | Cogan syndrome | |
| DOID:0060249 | scoliosis | |
| DOID:0060640 | ethylmalonic encephalopathy | |
| DOID:0060655 | autosomal recessive congenital ichthyosis | |
| DOID:0060656 | autosomal recessive congenital ichthyosis 1 | |
| DOID:0060710 | autosomal recessive congenital ichthyosis 2 | |
| DOID:0060711 | autosomal recessive congenital ichthyosis 3 |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000007 | Autosomal recessive inheritance |
| HP:0000252 | Microcephaly |
| HP:0000483 | Astigmatism |
| HP:0000488 | Retinopathy |
| HP:0000545 | Myopia |
| HP:0000551 | Color vision defect |
| HP:0000608 | Macular degeneration |
| HP:0000613 | Photophobia |
| HP:0000682 | Abnormal dental enamel morphology |
| HP:0000958 | Dry skin |
| Disease ID | Disease Name |
|---|---|
| ORPHA:816 |
|
| OMIM:270200 |
|
PubChem Disease
- GHR Health Conditions
- MedGen Diseases
- OMIM Phenotypes
- KEGG Diseases
LIPID MAPS Gene / Proteome Database
- LMPD ID
- LMP000042
- Gene Name
- aldehyde dehydrogenase 3 family, member A2
Ortholog
| Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
|---|---|---|---|
| 178680 | WB:WBGene00000111 | ||
| 179026 | WB:WBGene00000110 | ||
| 45398 | FB:FBgn0010548 | ||
| 100000026 | ZFIN:ZDB-GENE-120823-1 | DANRE09448 | |
| 323653 | ZFIN:ZDB-GENE-040718-74 | ||
| 447920 | ZFIN:ZDB-GENE-040912-103 | ||
| 103027191 | ASTMX04448 | ||
| 108277490 | ICTPU10533 | ||
| 108277491 | ICTPU10533 | ||
| 113569715 | ELEEL06390 |
