AHCY adenosylhomocysteinase
Gene ID: 191, updated on 3-Nov-2024Gene type: protein coding
Also known as: SAHH; adoHcyase
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- Go to complete Gene record for AHCY
- Go to Variation Viewer for AHCY variants
Summary
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
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase | not available |
Genomic context
- Location:
- 20q11.22
- Sequence:
- Chromosome: 20; NC_000020.11 (34231981..34311836, complement)
- Total number of exons:
- 16
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for AHCY variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- AHCY database
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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