SARDH
From SNPedia
| is a | gene |
| is | mentioned by |
| Full name | sarcosine dehydrogenase |
| EntrezGene | 1757 |
| PheGenI | 1757 |
| VariationViewer | 1757 |
| ClinVar | SARDH |
| GeneCards | SARDH |
| dbSNP | 1757 |
| Diseases | SARDH |
| SADR | 1757 |
| HugeNav | 1757 |
| wikipedia | SARDH |
| SARDH | |
| gopubmed | SARDH |
| EVS | SARDH |
| HEFalMp | SARDH |
| MyGene2 | SARDH |
| 23andMe | SARDH |
| UniProt | Q9UL12 |
| Ensembl | ENSG00000123453 |
| OMIM | 604455 |
| # SNPs | 5 |
| Max Magnitude | Chromosome position | Summary | |
|---|---|---|---|
| rs140559739 | 1 | 133,704,962 | |
| rs149391396 | 1 | 133,671,694 | |
| rs149481147 | 1 | 133,729,820 | |
| rs397514504 | 0 | 133,733,963 | |
| rs7040170 | 0 | 133,721,245 |
The SARDH gene on ch 9 encodes the sarcosine dehydrogenase protein, a mitochondrial enzyme that catalyzes the chemical reaction N-demethylation of sarcosine to glycine (Wikipedia). Variants in this gene have been implicated when inherited as homozygous/recessives in the development of sarcosinemia; these include:
- rs149481147, aka P287L
- rs140559739, aka R514X
- rs149391396, aka R723X
