rs61735624
This variant is located in the CTH gene.
▶ClinVar annotation
About CTH
This gene encodes a cytoplasmic enzyme in the trans-sulfuration pathway that converts cystathione derived from methionine into cysteine. Glutathione synthesis in the liver is dependent upon the availability of cysteine. Mutations in this gene cause cystathioninuria. Alternative splicing of this gene results in three transcript variants encoding different isoforms. [provided by RefSeq, Jun 2010]
View all CTH variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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