Gene: AHCY

Alternate names for this Gene: SAHH|adoHcyase

Gene 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.

Gene is located in Chromosome: 20

Location in Chromosome : 20q11.22

Description of this Gene: adenosylhomocysteinase

Type of Gene: protein-coding

rs150653367 in AHCY gene and Body Height PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs121918608 in AHCY gene and Overgrowth PMID 26527160 2015 Adult-onset liver disease and hepatocellular carcinoma in S-adenosylhomocysteine hydrolase deficiency.

PMID 20852937 2010 S-adenosylhomocysteine hydrolase deficiency: two siblings with fetal hydrops and fatal outcomes.

PMID 26095522 2016 Liver transplantation for treatment of severe S-adenosylhomocysteine hydrolase deficiency.

PMID 22959829 2012 Clinical picture of S-adenosylhomocysteine hydrolase deficiency resembles phosphomannomutase 2 deficiency.

PMID 16736098 2006 S-adenosylhomocysteine hydrolase deficiency in a 26-year-old man.

rs1205349 in AHCY gene and Protein C antigen measurement PMID 20802025 2010 Genome-wide association study identifies novel loci for plasma levels of protein C: the ARIC study.

rs1205349 in AHCY gene and Protein C measurement PMID 20802025 2010 Genome-wide association study identifies novel loci for plasma levels of protein C: the ARIC study.

rs121918608 in AHCY gene and Rhabdomyolysis PMID 28779239 2017 Exome sequencing in Jewish and Arab patients with rhabdomyolysis reveals single-gene etiology in 43% of cases.

rs121918608 in AHCY gene and S-adenosylhomocysteine hydrolase deficiency PMID 16736098 2006 S-adenosylhomocysteine hydrolase deficiency in a 26-year-old man.

PMID 20852937 2010 S-adenosylhomocysteine hydrolase deficiency: two siblings with fetal hydrops and fatal outcomes.

PMID 19177456 2009 S-adenosylhomocysteine hydrolase (AHCY) deficiency: two novel mutations with lethal outcome.

PMID 15024124 2004 S-adenosylhomocysteine hydrolase deficiency in a human: a genetic disorder of methionine metabolism.