GADL1
Glutamate Decarboxylase Like 1
Gene Information Card
| Symbol | GADL1 |
|---|---|
| Full Name | Glutamate Decarboxylase Like 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 9p24.2 |
| NCBI Gene ID | 339896 ncbi.nlm.nih.gov/gene/339896 |
| Ensembl ID | ENSG00000165029 |
| UniProt ID | Q6ZQY3 |
| OMIM ID | 612021 |
| HGNC ID | 27978 |
| Aliases | FLJ38717, MGC138499, MGC138501 |
Description
GADL1 (Glutamate Decarboxylase Like 1) is a protein-coding gene located on chromosome 9p24.2. It encodes an enzyme that catalyzes the decarboxylation of aspartate to beta-alanine and of glutamate to gamma-aminobutyric acid (GABA), playing a role in neurotransmitter synthesis and metabolic pathways. The gene is expressed in various tissues, with highest levels in the brain and kidney.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Aspartate decarboxylase deficiency | Loss-of-function mutations in GADL1 impair beta-alanine production, leading to accumulation of aspartate and neurological symptoms. | ClinVar, OMIM |
| Epilepsy | Variants in GADL1 may alter GABA synthesis, contributing to seizure susceptibility. | ClinVar, literature |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Kidney | 8.3 | Medium |
| Testis | 4.1 | Low |
| Liver | 2.0 | Low |
| Heart | 1.5 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 6.2 | Moderate expression |
| SH-SY5Y | 4.8 | Neuronal cell line |
| HepG2 | 1.1 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.104C>T (p.Pro35Leu) | missense | Rare | Reduced enzyme activity |
| c.457G>A (p.Gly153Arg) | missense | Rare | Loss of function |
| c.1A>G (p.Met1?) | start loss | Very rare | No protein production |
Mutation functional classification
Loss of Function (LOF)
Missense and start-loss variants that reduce or abolish decarboxylase activity.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • GO:0004358 (GO:0004358) | • GO:0006536 (GO:0006536) |
| • GO:0009448 (GO:0009448) | • GO:0005829 (GO:0005829) |
| • GO:0005737 (GO:0005737) |
Pathways
• Beta-alanine metabolism
• GABAergic synapse
Protein Summary
GADL1 encodes a 514-amino acid protein belonging to the group II decarboxylase family. It functions as a pyridoxal phosphate-dependent enzyme that decarboxylates aspartate to beta-alanine and glutamate to GABA. The protein is localized in the cytoplasm and is involved in neurotransmitter metabolism and amino acid homeostasis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| GADL1 Knockout HEK293 Cell Line | EDJ-KQ13539 | Human | 339896 | Details Get a Quote |
| GADL1 Knockout HeLa Cell Line | EDJ-KQ59656 | Human | 339896 | Details Get a Quote |
| GADL1 Knockout A-549 Cell Line | EDJ-KQ68127 | Human | 339896 | Details Get a Quote |
| GADL1 Knockout HCT 116 Cell Line | EDJ-KQ76503 | Human | 339896 | Details Get a Quote |
