SARDH
Sarcosine Dehydrogenase Gene
Gene Information Card
| Symbol | SARDH |
|---|---|
| Full Name | Sarcosine Dehydrogenase |
| Gene Type | Protein coding |
| Chromosomal Location | 9q34.2 |
| NCBI Gene ID | 1757 ncbi.nlm.nih.gov/gene/1757 |
| Ensembl ID | ENSG00000136872 |
| UniProt ID | Q9UL12 |
| OMIM ID | 604455 |
| HGNC ID | 10534 |
| Aliases | SDH, SARD, SARDH1, MGC126218 |
Description
The SARDH gene encodes sarcosine dehydrogenase, a mitochondrial flavoenzyme that catalyzes the oxidative demethylation of sarcosine (N-methylglycine) to glycine, formaldehyde, and hydrogen peroxide. This enzyme is involved in one-carbon metabolism and the degradation of choline and sarcosine. Mutations in SARDH cause sarcosinemia, a rare autosomal recessive metabolic disorder characterized by elevated sarcosine levels in blood and urine.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Sarcosinemia | Loss-of-function mutations in SARDH impair sarcosine dehydrogenase activity, leading to accumulation of sarcosine in body fluids. | OMIM #268900; ClinVar; multiple case reports |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | High |
| Kidney | 8.3 | Medium |
| Heart | 4.1 | Medium |
| Brain | 2.7 | Low |
| Lung | 1.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 10.2 | Liver cancer cell line; high expression |
| HEK293 | 3.5 | Embryonic kidney; moderate expression |
| K562 | 1.1 | Leukemia; low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1214C>T (p.Pro405Leu) | Missense | Unknown | Reduced enzyme activity; associated with sarcosinemia |
| c.1465C>T (p.Arg489Trp) | Missense | Unknown | Impaired catalytic function; reported in patients |
| c.1A>G (p.Met1Val) | Start loss | Unknown | Loss of translation initiation; likely pathogenic |
Mutation functional classification
Loss of Function (LOF)
Most SARDH mutations are loss-of-function, reducing or abolishing sarcosine dehydrogenase activity, leading to sarcosinemia.
Gain of Function (GOF)
No gain-of-function mutations have been reported for SARDH.
Dominant Negative (DN)
No dominant-negative effects have been described; sarcosinemia is autosomal recessive.
View complete mutation data：
Gene Ontology (GO)
| • mitochondrion (GO:0005739) | • sarcosine dehydrogenase activity (GO:0008112) |
| • glycine catabolic process (GO:0006546) | • glycine decarboxylation via glycine cleavage system (GO:0019464) |
| • oxidation-reduction process (GO:0055114) |
Pathways
• Glycine
• serine and threonine metabolism (KEGG: hsa00260)
• One-carbon metabolism (Reactome: R-HSA-156590)
Protein Summary
Sarcosine dehydrogenase is a mitochondrial matrix enzyme that exists as a homotetramer. It contains a flavin adenine dinucleotide (FAD) cofactor and an iron-sulfur cluster. The enzyme catalyzes the conversion of sarcosine to glycine and formaldehyde, playing a key role in one-carbon unit transfer. Deficiency leads to sarcosinemia, a benign condition in most cases, though some patients may present with developmental delay or neurological symptoms.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SARDH Knockout HEK293 Cell Line | EDJ-KQ2955 | Human | 1757 | Details Get a Quote |
| SARDH Knockout HCT 116 Cell Line | EDJ-KQ24094 | Human | 1757 | Details Get a Quote |
| SARDH Knockout HeLa Cell Line | EDJ-KQ53094 | Human | 1757 | Details Get a Quote |
| SARDH Knockout A-549 Cell Line | EDJ-KQ61567 | Human | 1757 | Details Get a Quote |
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