ALDH3B1
protein-codingaldehyde dehydrogenase 3 family member B1, the group of Aldehyde dehydrogenases
Gene summary
This gene encodes a member of the aldehyde dehydrogenase protein family. Aldehyde dehydrogenases are a family of isozymes that may play a major role in the detoxification of aldehydes generated by alcohol metabolism and lipid peroxidation. The encoded protein is able to oxidize long-chain fatty aldehydes in vitro, and may play a role in protection from oxidative stress. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2014]
- ALDH7
MANE transcript
Inheritance
ClinVar variants
Top phenotype
gnomAD constraint
Max pathogenic AF
Genomic locus
External References & Databases
Transcript & Mutation Effects
hg38 • Region Span ~20.7 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 ALDH3B1 variants in ClinVar
ClinVar Variants & Pathogenicity by Type
Statistics based on transcript NM_000694.4. 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 | 5 | 7 | |||
| missense | 13 | 13 | ||||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| splice donor/acceptor (+/-2bp) | 2 | 2 | ||||
| Total | 0 | 0 | 17 | 5 | 0 | 22 |
Transcript Catalog
Annotated transcript isoforms across RefSeq and Ensembl databases
| Transcript ID | Source | Protein ID | Coding Exons | MANE Status |
|---|---|---|---|---|
| RefSeq | NP_000685.1 | 9 | MANE Select | |
| Ensembl | ENSP00000473990.2 | 9 | MANE Select | |
| RefSeq | NP_001025181.1 | 8 | Standard | |
| RefSeq | NP_001154945.1 | 9 | Standard |
Gene Ontology (GO) Annotations & Pathways
Biological processes, molecular functions, cellular components and pathways
Pathways ConsensusPathDB
- Glycolysis / Gluconeogenesis - Homo sapiens (human)
- beta-Alanine metabolism - Homo sapiens (human)
- Phenylalanine metabolism - Homo sapiens (human)
- Histidine metabolism - Homo sapiens (human)
- Metabolism of xenobiotics by cytochrome P450 - Homo sapiens (human)
Biological Process
- alcohol metabolic process
- ethanol catabolic process
- lipid metabolic process
- sphingolipid biosynthetic process
- cellular response to oxidative stress
Molecular Function
- 3-chloroallyl aldehyde dehydrogenase activity
- aldehyde dehydrogenase (NAD) activity
- aldehyde dehydrogenase [NAD(P)+] activity
- protein binding
Cellular Component
- cytoplasm
- cytosol
- plasma membrane
- secretory granule membrane
- vesicle
gnomAD Constraint
Source:
- Gene type
- protein_coding
- Transcript type
- protein_coding
- Transcript
- ENST00000539229
- Coding exons
- 12
- Length
- 20697
- Individuals with no LoFs
- 771
- Homozygous LoFs
- 124790
- Heterozygous LoFs
- 184
- Defined
- 125745
- p
- 0.922
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible | |
|---|---|---|---|---|---|---|
| Missense | 0.959 | 259 | 306 | 0.846 | 0.0000214 | 2954 |
| Missense (PolyPhen) | 68 | 92.921 | 0.7318 | 999 | ||
| Synonymous | -0.107 | 130 | 128 | 1.01 | 0.00000967 | 894 |
| Loss of Function | 1.58 | 11 | 18.3 | 0.601 | 8.44e-7 | 201 |
Population LoF Frequency
| Population | CAF | p-value | Status |
|---|---|---|---|
| African | 1.0 | 0.90 | notable |
| Latino/Admixed American | 1.0 | 0.95 | notable |
| Ashkenazi Jewish | 1.0 | 0.89 | notable |
| East Asian | 0.99 | 0.95 | notable |
| Finnish | 1.0 | 0.92 | notable |
| European (Non-Finnish) | 1.0 | 0.91 | notable |
| South Asian | 1.0 | 0.94 | notable |
| Other | 1.0 | 0.92 | notable |
dbNSFP Gene Annotations
Source:
- Function
- FUNCTION: Oxidizes medium and long chain saturated and unsaturated aldehydes. Metabolizes also benzaldehyde. Low activity towards acetaldehyde and 3,4-dihydroxyphenylacetaldehyde. May not metabolize short chain aldehydes. May use both NADP(+) and NAD(+) as cofactors. May have a protective role against the cytotoxicity induced by lipid peroxidation. {ECO:0000269|PubMed:17382292, ECO:0000269|PubMed:23721920}.;
Recessive Scores
- pRec
- 0.110
Essentials
- Essential (CRISPR2)
- N
- Indispensability pred.
- E
- Indispensability score
- 0.964
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |