ALDH9A1 (aldehyde dehydrogenase 9 family member A1)
|
Gene
Gene information from NCBI Gene database.
|
|
| Entrez ID | 223 |
| Gene name | Aldehyde dehydrogenase 9 family member A1 |
| Gene symbol | ALDH9A1 |
| Synonyms (NCBI Gene) |
ALDH4ALDH7ALDH9E3TMABA-DHTMABADHTMABALDH
|
| Chromosome | 1 |
| Chromosome location | 1q24.1 |
| Summary | This protein belongs to the aldehyde dehydrogenase family of proteins. It has a high activity for oxidation of gamma-aminobutyraldehyde and other amino aldehydes. The enzyme catalyzes the dehydrogenation of gamma-aminobutyraldehyde to gamma-aminobutyric a |
|
SNPs
SNP information provided by dbSNP.
1
|
|||||||||
|
|||||||||
|
miRNA
miRNA information provided by mirtarbase database.
587
|
|||||||||||||||||||||||||
|
|||||||||||||||||||||||||
|
Gene ontology (GO)
Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
26
|
|||||||||||||||||||||||||||||||
|
|||||||||||||||||||||||||||||||
|
Other IDs
Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
|
|||||||
|
|||||||
|
Protein
Protein information from UniProt database.
|
|||||||||||
|
UniProt ID
Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
|
P49189 | ||||||||||
| Protein name | 4-trimethylaminobutyraldehyde dehydrogenase (TMABA-DH) (TMABALDH) (EC 1.2.1.47) (Aldehyde dehydrogenase E3 isozyme) (Aldehyde dehydrogenase family 9 member A1) (EC 1.2.1.3) (Formaldehyde dehydrogenase) (EC 1.2.1.46) (Gamma-aminobutyraldehyde dehydrogenase | ||||||||||
| Protein function | Converts gamma-trimethylaminobutyraldehyde into gamma-butyrobetaine with high efficiency (in vitro). Can catalyze the irreversible oxidation of a broad range of aldehydes to the corresponding acids in an NAD-dependent reaction, but with low effi | ||||||||||
| PDB | 6QAK , 6QAO , 6QAP , 6VR6 , 6VWF | ||||||||||
| Family and domains |
Pfam
|
||||||||||
| Tissue specificity | TISSUE SPECIFICITY: Detected in brain (at protein level) (PubMed:8645224). High expression in adult liver, skeletal muscle, and kidney. Low levels in heart, pancreas, lung and brain (PubMed:8786138). Expressed in all regions of the brain. Expression level | ||||||||||
| Sequence | |||||||||||
| Sequence length | 494 | ||||||||||
| Interactions | View interactions | ||||||||||
|
Pathways
Pathway information has different metabolic/signaling pathways associated with genes.
|
|
|
Associated diseases
Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
5
|
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|
Evidence Score:
★☆☆☆☆ Gene-disease association found in Text Mining only
★★☆☆☆ Found in Text Mining and Unknown/Other Associations
★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources
★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
|
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|
Related Genes
Genes most often co-reported with ALDH9A1 across shared curated disease and pathway associations.
5
|
|
|
Diseases Linked via Similar Genes
Diseases curated for genes most similar to ALDH9A1 (see Related Genes above), that are NOT already directly curated for ALDH9A1 itself -- a lead worth checking, not a confirmed association.
5
|
|