SDSL (Serine Dehydratase Like)
Gene encoding a serine/threonine dehydratase involved in amino acid metabolism
Gene Information Card
| Symbol | SDSL |
|---|---|
| Full Name | Serine Dehydratase Like |
| Gene Type | Protein coding |
| Chromosomal Location | 12q24.22 |
| NCBI Gene ID | 113675 ncbi.nlm.nih.gov/gene/113675 |
| Ensembl ID | ENSG00000139410 |
| UniProt ID | Q96GA7 |
| OMIM ID | 613670 |
| HGNC ID | 20339 |
| Aliases | SDSL1, SDSL2, L-serine dehydratase/L-threonine deaminase-like |
Description
SDSL encodes a member of the serine/threonine dehydratase family. The enzyme catalyzes the pyridoxal phosphate-dependent deamination of L-serine and L-threonine to pyruvate and 2-oxobutanoate, respectively, playing a role in amino acid catabolism and gluconeogenesis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No disease association reported | Not applicable | No ClinVar or OMIM disease entries |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | Medium |
| Kidney | 8.3 | Medium |
| Small intestine | 6.1 | Low |
| Pancreas | 4.7 | Low |
| Brain | 2.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 15.2 | Hepatocellular carcinoma |
| HEK293 | 9.8 | Embryonic kidney |
| A549 | 5.4 | Lung carcinoma |
| K562 | 3.1 | Leukemia |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | Missense | <0.01% | Likely benign |
| c.100C>T | Nonsense | <0.01% | Premature stop, loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense mutations (e.g., c.100C>T) lead to truncated protein and loss of enzymatic 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)
| • L-serine ammonia-lyase activity (GO:0003941) | • L-threonine ammonia-lyase activity (GO:0004794) |
| • cellular amino acid metabolic process (GO:0006520) | • cytoplasm (GO:0005737) |
Pathways
• Glycine
• serine and threonine metabolism (KEGG: hsa00260)
• Biosynthesis of amino acids (KEGG: hsa01230)
Protein Summary
The SDSL protein is a 328-amino acid pyridoxal phosphate-dependent enzyme localized in the cytoplasm. It catalyzes the deamination of L-serine to pyruvate and L-threonine to 2-oxobutanoate, contributing to gluconeogenesis and amino acid homeostasis. Expression is highest in liver and kidney.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SDSL Knockout HEK293 Cell Line | EDJ-KQ7429 | Human | 113675 | Details Get a Quote |
| SDSL Knockout A-549 Cell Line | EDJ-KQ32631 | Human | 113675 | Details Get a Quote |
| SDSL Knockout HCT 116 Cell Line | EDJ-KQ32632 | Human | 113675 | Details Get a Quote |
| SDSL Knockout HeLa Cell Line | EDJ-KQ32633 | Human | 113675 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
