HomeAboutRankingsData Sources
© 2026 GeneE
🧬
GeneE
10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
ⓘGeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
CSAD
cysteine sulfinic acid decarboxylase
Chromosome 12 · 12q13.13
NCBI Gene: 51380Ensembl: ENSG00000139631.21HGNC: HGNC:18966UniProt: Q86V02
18PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
L-cysteine catabolic processsulfinoalanine decarboxylase activitytaurine biosynthetic processcytoplasmneurodegenerative diseaseAlzheimer diseasemultiple sclerosisParkinson disease
✦AI Summary

CSAD (cysteine sulfinic acid decarboxylase) is a pyridoxal-5'-phosphate (PLP)-dependent enzyme that primarily catalyzes the decarboxylation of cysteine sulfinic acid to hypotaurine, which is subsequently converted to taurine 1. This enzyme represents the rate-limiting step in mammalian taurine biosynthesis and is essential for maintaining cellular taurine homeostasis 2. CSAD exhibits highest expression during prenatal and early postnatal brain development and is found in both neurons and astrocytes 1. The enzyme's transcription is regulated by hepatocyte nuclear factor 4α (HNF4α) and is repressed by bile acid signaling through the FXR-SHP pathway, coupling hepatic taurine production to bile acid synthesis 3. Beyond its metabolic role, CSAD functions as an anti-inflammatory regulator by directly interacting with IKKα to inhibit excessive NF-κB signaling during viral infections 4. CSAD knockout mice demonstrate severe taurine deficiency, with neonatal mortality rates of 85% that can be rescued by maternal taurine supplementation 2. Disease relevance includes associations with fulminant type 1 diabetes susceptibility 5 and protection against alcohol-associated fatty liver disease through taurine-mediated lipid metabolism regulation 6.

Sources cited
1
CSAD is a PLP-dependent enzyme that decarboxylates cysteine sulfinic acid and has distinct brain expression patterns
PMID: 26327310
2
CSAD knockout causes severe taurine deficiency and high neonatal mortality rescued by taurine supplementation
PMID: 24639894
3
CSAD transcription is regulated by HNF4α and repressed by bile acid signaling
PMID: 29871716
4
CSAD inhibits excessive inflammation by interacting with IKKα to suppress NF-κB signaling
PMID: 40952115
5
CSAD genetic variants are associated with fulminant type 1 diabetes susceptibility
PMID: 33088637
6
CSAD-regulated taurine pathway protects against alcohol-associated fatty liver disease
PMID: 40577472
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.50Moderate
Alzheimer diseaseOpen Targets
0.28Weak
lysosomal storage diseaseOpen Targets
0.28Weak
multiple sclerosisOpen Targets
0.28Weak
Parkinson diseaseOpen Targets
0.28Weak
type 2 diabetes mellitusOpen Targets
0.15Weak
Abnormality of the skeletal systemOpen Targets
0.14Weak
mathematical abilityOpen Targets
0.11Weak
preeclampsiaOpen Targets
0.11Weak
type 1 diabetes mellitusOpen Targets
0.08Suggestive
azoospermiaOpen Targets
0.08Suggestive
non-alcoholic fatty liver diseaseOpen Targets
0.08Suggestive
familial primary pulmonary hypoplasiaOpen Targets
0.04Suggestive
nonpapillary renal cell carcinomaOpen Targets
0.03Suggestive
hypertension, pregnancy-inducedOpen Targets
0.03Suggestive
osteoarthritis, kneeOpen Targets
0.02Suggestive
chronic kidney diseaseOpen Targets
0.02Suggestive
viral diseaseOpen Targets
0.02Suggestive
hepatocellular carcinomaOpen Targets
0.02Suggestive
prostate cancerOpen Targets
0.02Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
PDXDC1Shared pathway100%ADOProtein interaction99%GOT1Protein interaction98%GADL1Protein interaction97%GOT1L1Protein interaction96%AGXT2Protein interaction95%
Tissue Expression6 tissues
Liver
100%
Ovary
58%
Bone Marrow
38%
Lung
32%
Heart
15%
Brain
4%
Gene Interaction Network
Click a node to explore
CSADPDXDC1ADOGOT1GADL1GOT1L1AGXT2
PROTEIN STRUCTURE
Preparing viewer…
PDB2JIS · 1.60 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.97LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.76 [0.60–0.97]
RankingsWhere CSAD stands among ~20K protein-coding genes
  • #14,674of 20,598
    Most Researched18
  • #9,243of 17,882
    Most Constrained (LOEUF)0.97
Genes detectedCSAD
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Hepatic NMNAT1 is required to defend against alcohol-associated fatty liver disease.
PMID: 40577472
Sci Adv · 2025
1.00
2
Taurine Alleviates Experimental Colitis by Enhancing Intestinal Barrier Function and Inhibiting Inflammatory Response through TLR4/NF-κB Signaling.
PMID: 38761152
J Agric Food Chem · 2024
0.90
3
CSAD inhibits excessive inflammation during viral infections through the NF-κB signaling pathway.
PMID: 40952115
J Virol · 2025
0.80
4
Mammalian CSAD and GADL1 have distinct biochemical properties and patterns of brain expression.
PMID: 26327310
Neurochem Int · 2015
0.70
5
HNF4α Regulates CSAD to Couple Hepatic Taurine Production to Bile Acid Synthesis in Mice.
PMID: 29871716
Gene Expr · 2018
0.60