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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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GADL1
glutamate decarboxylase like 1
Chromosome 3 · 3p24.1-p23
NCBI Gene: 339896Ensembl: ENSG00000144644.16HGNC: HGNC:27949UniProt: Q6ZQY3
11PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
carboxy-lyase activitycytoplasmcytosolpyridoxal phosphate bindingalcohol drinkingneuroinflammatory disordermetabolic syndrome Xsmoking initiation
✦AI Summary

GADL1 (glutamate decarboxylase-like 1) is a pyridoxal-5'-phosphate-dependent decarboxylase localized to the cytoplasm that catalyzes the conversion of aspartate, cysteine sulfinic acid, and cysteic acid to β-alanine, hypotaurine, and taurine, respectively 1. Unlike classical glutamic acid decarboxylase, GADL1 exhibits no decarboxylation activity toward glutamate 1. The enzyme has tissue-specific expression patterns, peaking during early prenatal development in the brain, and is expressed exclusively in neurons rather than astrocytes 1. GADL1 plays critical roles in carnosine and β-alanine biosynthesis, with Gadl1-knockout mice demonstrating deficiency in these metabolites, particularly in the olfactory bulb, cerebral cortex, and skeletal muscle, accompanied by altered oxidative stress, energy metabolism, and anxiety phenotypes 2. Human genetic studies demonstrate strong associations between the GADL1 locus and plasma carnosine levels, subjective well-being, and muscle strength 2. GADL1 genetic variants (rs17026688, rs17026651) are significantly associated with lithium response in bipolar I disorder patients of Han Chinese descent, with sensitivity of 93% for predicting treatment response 3. Additionally, GADL1 overexpression suppresses cell migration through downregulation of migration-related genes and modulates immune responses and glycogen synthase kinase-3 signaling, which may underlie its role in lithium responsiveness 4, 5.

Sources cited
1
GADL1 is a PLP-dependent decarboxylase that prefers cysteine sulfinic acid as substrate, is expressed in neurons during prenatal development, and does not decarboxylate glutamate
PMID: 26327310
2
GADL1 produces β-alanine and carnosine; Gadl1-/- mice are deficient in these metabolites and show altered anxiety, oxidative stress, and energy metabolism; GADL1 variants associate with plasma carnosine, well-being, and muscle strength
PMID: 32733999
3
GADL1 variants rs17026688 and rs17026651 are strongly associated with lithium response in bipolar I disorder with 93% sensitivity for predicting response
PMID: 24369049
4
GADL1 overexpression suppresses neuroblastoma cell migration by downregulating migration-related genes and affects sensitivity to lithium treatment
PMID: 30923325
5
GADL1 regulates KCTD12 expression through GSK-3 signaling modulation, linking GADL1 to lithium response mechanisms in bipolar disorder
PMID: 31311980
6
GADL1 genetic variations determine levels of metabolites including L-carnosine and anserine in skeletal muscle
PMID: 37013465
Disease Associationsⓘ20
alcohol drinkingOpen Targets
0.41Moderate
neuroinflammatory disorderOpen Targets
0.30Weak
metabolic syndrome XOpen Targets
0.29Weak
smoking initiationOpen Targets
0.27Weak
Abnormality of the skeletal systemOpen Targets
0.26Weak
Parkinson diseaseOpen Targets
0.26Weak
neurodegenerative diseaseOpen Targets
0.24Weak
joint diseaseOpen Targets
0.22Weak
psoriatic arthritisOpen Targets
0.19Weak
cervical carcinomaOpen Targets
0.19Weak
neuroendocrine neoplasmOpen Targets
0.17Weak
breast benign neoplasmOpen Targets
0.17Weak
preeclampsiaOpen Targets
0.11Weak
ovarian carcinomaOpen Targets
0.04Suggestive
pancreatic carcinomaOpen Targets
0.03Suggestive
neoplasmOpen Targets
0.02Suggestive
SplenomegalyOpen Targets
0.02Suggestive
trauma complicationOpen Targets
0.02Suggestive
amputationOpen Targets
0.02Suggestive
breast carcinomaOpen Targets
0.02Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
PDXDC1Shared pathway100%GOT1Protein interaction98%ADOProtein interaction98%CSADProtein interaction97%GOT1L1Protein interaction96%ABATProtein interaction95%
Tissue Expression6 tissues
Brain
100%
Heart
32%
Lung
17%
Ovary
14%
Liver
8%
Bone Marrow
0%
Gene Interaction Network
Click a node to explore
GADL1PDXDC1GOT1ADOCSADGOT1L1ABAT
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q6ZQY3
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.24LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.89 [0.65–1.24]
RankingsWhere GADL1 stands among ~20K protein-coding genes
  • #16,759of 20,598
    Most Researched11
  • #13,106of 17,882
    Most Constrained (LOEUF)1.24
Genes detectedGADL1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Metabolome-Based Genome-Wide Association Study of Duck Meat Leads to Novel Genetic and Biochemical Insights.
PMID: 37013465
Adv Sci (Weinh) · 2023
1.00
2
Mammalian CSAD and GADL1 have distinct biochemical properties and patterns of brain expression.
PMID: 26327310
Neurochem Int · 2015
0.90
3
GADL1 is a multifunctional decarboxylase with tissue-specific roles in β-alanine and carnosine production.
PMID: 32733999
Sci Adv · 2020
0.80
4
Lithium response in bipolar disorder: No difference in GADL1 gene expression between cell lines from excellent-responders and non-responders.
PMID: 28214779
Psychiatry Res · 2017
0.70
5
Effects of GADL1 overexpression on cell migration and the associated morphological changes.
PMID: 30923325
Sci Rep · 2019
0.60