CSAD
Cysteine Sulfinic Acid Decarboxylase
Gene Information Card
| Symbol | CSAD |
|---|---|
| Full Name | Cysteine Sulfinic Acid Decarboxylase |
| Gene Type | Protein-coding |
| Chromosomal Location | 12q13.13 |
| NCBI Gene ID | 51380 ncbi.nlm.nih.gov/gene/51380 |
| Ensembl ID | ENSG00000139618 |
| UniProt ID | Q9Y600 |
| OMIM ID | 609195 |
| HGNC ID | 24294 |
| Aliases | CSAD1, CSAD2, CSAD3 |
Description
The CSAD gene encodes cysteine sulfinic acid decarboxylase, a pyridoxal phosphate-dependent enzyme that catalyzes the decarboxylation of cysteine sulfinate to hypotaurine, a key step in taurine biosynthesis. Taurine is involved in bile acid conjugation, osmoregulation, and calcium signaling. CSAD is primarily expressed in liver, kidney, and brain.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Taurine deficiency | Reduced CSAD activity leads to impaired taurine synthesis | OMIM 609195 |
| Cardiomyopathy | Taurine depletion due to CSAD dysfunction may contribute to cardiac dysfunction | OMIM 609195 |
| Retinal degeneration | Taurine deficiency from CSAD mutations is associated with retinal cell death | OMIM 609195 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | Medium |
| Kidney | 10.3 | Medium |
| Brain | 8.1 | Medium |
| Heart | 4.2 | Low |
| Skeletal Muscle | 2.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 15.0 | Hepatocyte line |
| HEK293 | 7.5 | Embryonic kidney line |
| SH-SY5Y | 6.8 | Neuroblastoma line |
| K562 | 1.2 | Leukemia line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1045C>T (p.Arg349*) | Nonsense | Rare | Loss of function |
| c.832G>A (p.Gly278Arg) | Missense | Rare | Reduced enzyme activity |
| c.1234delC | Frameshift | Rare | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations lead to truncated or absent protein, reducing taurine biosynthesis.
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)
Pathways
• Taurine and hypotaurine metabolism (KEGG: hsa00430)
• Biosynthesis of amino acids (KEGG: hsa01230)
Protein Summary
Cysteine sulfinic acid decarboxylase (CSAD) is a 493-amino acid protein that belongs to the group II decarboxylase family. It requires pyridoxal phosphate as a cofactor and is localized in the cytoplasm. The enzyme converts cysteine sulfinate to hypotaurine, which is then oxidized to taurine. CSAD is highly expressed in liver and kidney, and its deficiency leads to reduced taurine levels, implicated in cardiomyopathy, retinal degeneration, and metabolic disorders.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CSAD Knockout HEK293 Cell Line | EDJ-KQ2797 | Human | 51380 | Details Get a Quote |
| CSAD Knockout A-549 Cell Line | EDJ-KQ23727 | Human | 51380 | Details Get a Quote |
| CSAD Knockout HCT 116 Cell Line | EDJ-KQ23728 | Human | 51380 | Details Get a Quote |
| CSAD Knockout HeLa Cell Line | EDJ-KQ23729 | Human | 51380 | Details Get a Quote |
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