ALDH9A1
protein-codingaldehyde dehydrogenase 9 family member A1, the group of Aldehyde dehydrogenases
Gene 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 acid (GABA). This isozyme is a tetramer of identical 54-kD subunits. [provided by RefSeq, Jul 2008]
- ALDH7
- ALDH4
- ALDH9
MANE transcript
Inheritance
ClinVar variants
Top phenotype
gnomAD constraint
Max pathogenic AF
Genomic locus
External References & Databases
Transcript & Mutation Effects
hg38 • Region Span ~36.3 kbGenCC Phenotypes & Disease Associations
Curated gene-disease validity assertions and inheritance patterns
No GenCC data available for this gene.
ClinVar Associated Diseases & Phenotypes
Reported disease conditions connected to ALDH9A1 variants in ClinVar
ClinVar Variants & Pathogenicity by Type
Statistics based on transcript NM_000696.4. Only rare variants are included.
We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.
Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.
| Effect | PathogenicP | Likely pathogenicLP | VUS | Likely benignLB | BenignB | Sum |
|---|---|---|---|---|---|---|
| synonymous | 2 | 2 | 4 | |||
| missense | 72 | 3 | 75 | |||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| splice donor/acceptor (+/-2bp) | 4 | 4 | ||||
| Total | 0 | 0 | 78 | 5 | 0 | 83 |
Transcript Catalog
Annotated transcript isoforms across RefSeq and Ensembl databases
| Transcript ID | Source | Protein ID | Coding Exons | MANE Status |
|---|---|---|---|---|
| RefSeq | NP_000687.3 | 11 | MANE Select | |
| Ensembl | ENSP00000346827.4 | 11 | MANE Select | |
| RefSeq | NP_001352703.1 | 10 | Standard | |
| Ensembl | ENSP00000535533.1 | 11 | Standard |
Gene Ontology (GO) Annotations & Pathways
Biological processes, molecular functions, cellular components and pathways
Pathways ConsensusPathDB
- Tryptophan metabolism - Homo sapiens (human)
- Pyruvate metabolism - Homo sapiens (human)
- Arginine and proline metabolism - Homo sapiens (human)
- Glycolysis / Gluconeogenesis - Homo sapiens (human)
- Glycerolipid metabolism - Homo sapiens (human)
Biological Process
- cellular aldehyde metabolic process
- neurotransmitter biosynthetic process
- hormone metabolic process
- carnitine biosynthetic process
- oxidation-reduction process
Molecular Function
- 3-chloroallyl aldehyde dehydrogenase activity
- aldehyde dehydrogenase (NAD) activity
- aminobutyraldehyde dehydrogenase activity
- 1-pyrroline dehydrogenase activity
- glyceraldehyde-3-phosphate dehydrogenase (NAD+) (non-phosphorylating) activity
Cellular Component
- cytoplasm
- cytosol
- extracellular exosome
gnomAD Constraint
Source:
- Gene type
- protein_coding
- Transcript type
- protein_coding
- Transcript
- ENST00000354775
- Coding exons
- 11
- Length
- 36648
- Individuals with no LoFs
- 125619
- Homozygous LoFs
- 0
- Heterozygous LoFs
- 129
- Defined
- 125748
- p
- 0.000513
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible | |
|---|---|---|---|---|---|---|
| Missense | -0.416 | 312 | 292 | 1.07 | 0.0000144 | 3352 |
| Missense (PolyPhen) | 117 | 110.34 | 1.0603 | 1297 | ||
| Synonymous | -0.856 | 119 | 108 | 1.10 | 0.00000563 | 1029 |
| Loss of Function | 1.01 | 20 | 25.5 | 0.783 | 0.00000141 | 297 |
Population LoF Frequency
| Population | CAF | p-value | Status |
|---|---|---|---|
| African | 0.000065 | 0.000062 | rare |
| Latino/Admixed American | 0.00033 | 0.00032 | rare |
| Ashkenazi Jewish | 0 | 0.0 | absent |
| East Asian | 0.00040 | 0.00038 | rare |
| Finnish | 0.0015 | 0.0014 | notable |
| European (Non-Finnish) | 0.00070 | 0.00067 | rare |
| South Asian | 0.00010 | 0.000098 | rare |
| Other | 0 | 0.0 | absent |
dbNSFP Gene Annotations
Source:
- Function
- FUNCTION: Converts gamma-trimethylaminobutyraldehyde into gamma- butyrobetaine. Catalyzes the irreversible oxidation of a broad range of aldehydes to the corresponding acids in an NAD-dependent reaction. {ECO:0000269|PubMed:10702312}.;
Recessive Scores
- pRec
- 0.247
Intolerance Scores
- LoFtool
- 0.405
- RVIS EVS
- -0.02
- RVIS percentile EVS
- 52.15
Essentials
- Essential (CRISPR)
- N
- Essential (CRISPR2)
- N
- Essential (gene trap)
- N
- Indispensability pred.
- E
- Indispensability score
- 0.536
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |