GADL1
protein-codingglutamate decarboxylase like 1
Gene summary
Predicted to enable carboxy-lyase activity. Predicted to be located in cytosol. Predicted to be active in cytoplasm. [provided by Alliance of Genome Resources, Jun 2026]
MANE transcript
Inheritance
ClinVar variants
Top phenotype
gnomAD constraint
Max pathogenic AF
Genomic locus
External References & Databases
Transcript & Mutation Effects
hg38 • Region Span ~168.5 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 GADL1 variants in ClinVar
ClinVar Variants & Pathogenicity by Type
Statistics based on transcript NM_207359.3. 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 | ||||
| missense | 85 | 1 | 86 | |||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| Total | 0 | 0 | 85 | 3 | 0 | 88 |
Transcript Catalog
Annotated transcript isoforms across RefSeq and Ensembl databases
| Transcript ID | Source | Protein ID | Coding Exons | MANE Status |
|---|---|---|---|---|
| RefSeq | NP_997242.2 | 15 | MANE Select | |
| Ensembl | ENSP00000282538.5 | 15 | MANE Select | |
| Ensembl | ENSP00000427059.1 | 12 | Standard | |
| Ensembl | ENSP00000427059.1 | 12 | Standard |
Gene Ontology (GO) Annotations & Pathways
Biological processes, molecular functions, cellular components and pathways
Pathways ConsensusPathDB
- beta-Alanine metabolism - Homo sapiens (human)
- Pantothenate and CoA biosynthesis - Homo sapiens (human)
- Taurine and hypotaurine metabolism - Homo sapiens (human)
- Metabolism of amino acids and derivatives
- Metabolism
Biological Process
- sulfur amino acid catabolic process
- cellular amino acid biosynthetic process
Molecular Function
- aspartate 1-decarboxylase activity
- sulfinoalanine decarboxylase activity
- carboxy-lyase activity
- pyridoxal phosphate binding
Cellular Component
- cytosol
gnomAD Constraint
Source:
- Gene type
- protein_coding
- Transcript type
- protein_coding
- Transcript
- ENST00000282538
- Coding exons
- 15
- Length
- 168566
- Individuals with no LoFs
- 125212
- Homozygous LoFs
- 3
- Heterozygous LoFs
- 531
- Defined
- 125746
- p
- 0.00213
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible | |
|---|---|---|---|---|---|---|
| Missense | -0.724 | 306 | 272 | 1.12 | 0.0000133 | 3443 |
| Missense (PolyPhen) | 129 | 108.72 | 1.1865 | 1378 | ||
| Synonymous | -1.08 | 110 | 96.5 | 1.14 | 0.00000498 | 924 |
| Loss of Function | -0.287 | 31 | 29.3 | 1.06 | 0.00000131 | 385 |
Population LoF Frequency
| Population | CAF | p-value | Status |
|---|---|---|---|
| African | 0.00025 | 0.00025 | rare |
| Latino/Admixed American | 0.00013 | 0.00012 | rare |
| Ashkenazi Jewish | 0 | 0.0 | absent |
| East Asian | 0.000055 | 0.000054 | rare |
| Finnish | 0.000046 | 0.000046 | rare |
| European (Non-Finnish) | 0.00025 | 0.00021 | rare |
| South Asian | 0.016 | 0.016 | notable |
| Other | 0.0015 | 0.0015 | notable |
dbNSFP Gene Annotations
Source:
- Function
- FUNCTION: May catalyze the decarboxylation of L-aspartate, 3- sulfino-L-alanine (cysteine sulfinic acid), and L-cysteate to beta-alanine, hypotaurine and taurine, respectively. Does not exhibit any decarboxylation activity toward glutamate. {ECO:0000269|PubMed:23038267}.;
Recessive Scores
- pRec
- 0.123
Intolerance Scores
- LoFtool
- 0.926
- RVIS EVS
- 0.55
- RVIS percentile EVS
- 81.6
Essentials
- Essential (CRISPR)
- N
- Essential (CRISPR2)
- N
- Essential (gene trap)
- N
- Indispensability pred.
- N
- Indispensability score
- 0.252
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |