SDS (Serine Dehydratase) Gene
Key enzyme in serine and glycine metabolism, linked to serine deficiency disorders and cancer metabolism
Gene Information Card
| Symbol | SDS |
|---|---|
| Full Name | Serine Dehydratase |
| Gene Type | Protein-coding |
| Chromosomal Location | 12q24.13 |
| NCBI Gene ID | 10993 ncbi.nlm.nih.gov/gene/10993 |
| Ensembl ID | ENSG00000135094 |
| UniProt ID | P20132 |
| OMIM ID | 182128 |
| HGNC ID | 10687 |
| Aliases | SDH, L-serine dehydratase, L-serine ammonia-lyase |
Description
The SDS gene encodes serine dehydratase (SDH), a pyridoxal phosphate-dependent enzyme that catalyzes the deamination of L-serine to pyruvate and ammonia, and L-threonine to 2-ketobutyrate and ammonia. This enzyme plays a critical role in serine and glycine metabolism, gluconeogenesis, and one-carbon metabolism. SDS is primarily expressed in liver and kidney, and its deficiency leads to serine deficiency disorders, including neurological symptoms. The gene is also implicated in cancer metabolism, where altered serine/glycine flux supports tumor growth.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Serine Deficiency Syndrome | Loss-of-function mutations in SDS reduce serine dehydratase activity, impairing serine biosynthesis and leading to neurological deficits, microcephaly, and seizures. | ClinVar, OMIM |
| Glycine Encephalopathy (Nonketotic Hyperglycinemia) | Indirect: SDS dysfunction alters serine/glycine balance, potentially exacerbating glycine accumulation. | OMIM, literature |
| Cancer (e.g., colorectal, breast) | SDS overexpression in some tumors promotes serine catabolism, fueling nucleotide synthesis and proliferation via the serine/glycine pathway. | COSMIC, literature |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | High |
| Kidney | 8.3 | Medium |
| Small Intestine | 4.1 | Low |
| Pancreas | 2.7 | Low |
| Brain | 0.8 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 (liver) | 15.2 | High expression |
| HEK293 (kidney) | 9.8 | Medium expression |
| MCF7 (breast) | 3.5 | Low expression |
| A549 (lung) | 1.2 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | Rare | Loss of start codon, likely loss of function |
| c.104C>T (p.Thr35Met) | Missense | <0.01% | Reduced enzyme activity |
| c.487G>A (p.Gly163Arg) | Missense | <0.01% | Impaired catalytic function |
| c.715C>T (p.Arg239Trp) | Missense | <0.01% | Decreased stability and activity |
Mutation functional classification
Loss of Function (LOF)
Most reported SDS mutations (e.g., p.Thr35Met, p.Gly163Arg) reduce or abolish serine dehydratase activity, leading to serine deficiency.
Gain of Function (GOF)
No gain-of-function mutations reported in SDS.
Dominant Negative (DN)
No dominant-negative effects documented for SDS mutations.
View complete mutation data：
Gene Ontology (GO)
| • L-serine ammonia-lyase activity (GO:0003941) | • L-threonine ammonia-lyase activity (GO:0004794) |
| • L-serine catabolic process (GO:0006564) | • L-threonine catabolic process (GO:0006566) |
| • gluconeogenesis (GO:0006094) | • cytoplasm (GO:0005737) |
Pathways
• Serine and glycine metabolism (KEGG: hsa00260)
• Glycine
• serine and threonine metabolism (Reactome: R-HSA-71291)
• Gluconeogenesis (KEGG: hsa00010)
Protein Summary
Serine dehydratase (SDH) is a homodimeric enzyme of approximately 35 kDa per subunit, localized in the cytoplasm. It requires pyridoxal phosphate as a cofactor. The enzyme catalyzes the irreversible deamination of L-serine to pyruvate and ammonia, and L-threonine to 2-ketobutyrate and ammonia. SDH is a key regulator of serine homeostasis, linking amino acid metabolism to gluconeogenesis and one-carbon metabolism. Its expression is highest in liver and kidney, and it is transcriptionally regulated by amino acid availability and hormonal signals.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SDS Knockout HEK293 Cell Line | EDJ-KQ7237 | Human | 10993 | Details Get a Quote |
| 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 |
| SDS Knockout HeLa Cell Line | EDJ-KQ55540 | Human | 10993 | Details Get a Quote |
| SDS Knockout A-549 Cell Line | EDJ-KQ64033 | Human | 10993 | Details Get a Quote |
| SDS Knockout HCT 116 Cell Line | EDJ-KQ72483 | Human | 10993 | Details Get a Quote |
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