rs1229673205

This variant is located in the AHCY gene.

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ClinVar annotation

Uncertain Significance★☆☆☆
1 submitter

Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase

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About AHCY

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]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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