AHCY Chromosome 20
Adenosylhomocysteinase
Upload your DNA to see your personal genotypes for variants in AHCY.
What This Gene Does
S-adenosylhomocysteine hydrolase belongs to the adenosylhomocysteinase family. It catalyzes the reversible hydrolysis of S-adenosylhomocysteine (AdoHcy) to adenosine (Ado) and L-homocysteine (Hcy). Thus, it regulates the intracellular S-adenosylhomocysteine (SAH) concentration thought to be important for transmethylation reactions. Deficiency in this protein is one of the different causes of hypermethioninemia. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2009]
Associated Conditions (5)
Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
Inborn genetic diseases
AHCY-related disorder
Rhabdomyolysis
Familial cancer of breast
Key Variants
RS11552695
Conflicting classifications of pathogenicity
Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase, Inborn genetic diseases, Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
Health Risk
RS116846245
Conflicting classifications of pathogenicity
Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase, AHCY-related disorder, Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
Health Risk
RS1205748381
Conflicting classifications of pathogenicity
Inborn genetic diseases, Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase, Inborn genetic diseases
Health Risk
RS1279429799
Conflicting classifications of pathogenicity
Inborn genetic diseases, Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase, Inborn genetic diseases
Health Risk
RS139344907
Conflicting classifications of pathogenicity
Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase, Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
Health Risk
RS143931269
Conflicting classifications of pathogenicity
Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase, Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
Health Risk
RS145239391
Conflicting classifications of pathogenicity
Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase, Inborn genetic diseases, Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
Health Risk
RS146829385
Conflicting classifications of pathogenicity
Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase, Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
Health Risk
RS200332864
Conflicting classifications of pathogenicity
Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase, Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
Health Risk
RS201871637
Conflicting classifications of pathogenicity
Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase, Inborn genetic diseases, Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
Health Risk
RS370059571
Conflicting classifications of pathogenicity
Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase, Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
Health Risk
RS375253690
Conflicting classifications of pathogenicity
Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase, Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
Health Risk
All Variants (33)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS11552695 | Health Risk | Conflicting classifications of pathogenicity | Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase, Inborn genetic diseases, Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase |
| RS116846245 | Health Risk | Conflicting classifications of pathogenicity | Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase, AHCY-related disorder, Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase |
| RS1205748381 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase, Inborn genetic diseases |
| RS1279429799 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase, Inborn genetic diseases |
| RS139344907 | Health Risk | Conflicting classifications of pathogenicity | Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase, Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase |
| RS143931269 | Health Risk | Conflicting classifications of pathogenicity | Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase, Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase |
| RS145239391 | Health Risk | Conflicting classifications of pathogenicity | Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase, Inborn genetic diseases, Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase |
| RS146829385 | Health Risk | Conflicting classifications of pathogenicity | Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase, Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase |
| RS200332864 | Health Risk | Conflicting classifications of pathogenicity | Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase, Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase |
| RS201871637 | Health Risk | Conflicting classifications of pathogenicity | Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase, Inborn genetic diseases, Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase |
| RS370059571 | Health Risk | Conflicting classifications of pathogenicity | Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase, Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase |
| RS375253690 | Health Risk | Conflicting classifications of pathogenicity | Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase, Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase |
| RS375669228 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase, Inborn genetic diseases |
| RS376464023 | Health Risk | Conflicting classifications of pathogenicity | Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase, Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase |
| RS528770765 | Health Risk | Conflicting classifications of pathogenicity | Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase, Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase |
| RS57344541 | Health Risk | Conflicting classifications of pathogenicity | Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase, Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase |
| RS748855369 | Health Risk | Conflicting classifications of pathogenicity | Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase, Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase |
| RS755222515 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Rhabdomyolysis, Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase |
| RS757357954 | Health Risk | Conflicting classifications of pathogenicity | Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase, Familial cancer of breast, Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase |
| RS768480898 | Health Risk | Conflicting classifications of pathogenicity | Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase, Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase |
| RS774846394 | Health Risk | Conflicting classifications of pathogenicity | Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase, Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase |
| RS2036548764 | Health Risk | Likely pathogenic | Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase, Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase |
| RS2515180222 | Health Risk | Likely pathogenic | Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase, Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase |
| RS769267513 | Health Risk | Likely pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS121918607 | Health Risk | Pathogenic | Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase, Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase |
| RS2515172714 | Health Risk | Pathogenic | Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase, Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase |
| RS2515176184 | Health Risk | Pathogenic | Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase, Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase |
| RS2515204321 | Health Risk | Pathogenic | Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase, Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase |
| RS772729103 | Health Risk | Pathogenic | Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase, Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase |
| RS121918608 | Health Risk | Pathogenic/Likely pathogenic | Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase, Inborn genetic diseases, Rhabdomyolysis |
| RS369428934 | Health Risk | Pathogenic/Likely pathogenic | Inborn genetic diseases, Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase, Inborn genetic diseases |
| RS757966746 | Health Risk | Pathogenic/Likely pathogenic | Inborn genetic diseases, Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase, Inborn genetic diseases |
| RS773162208 | Health Risk | Pathogenic/Likely pathogenic | Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase, Inborn genetic diseases, Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase |