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