Disease-gene associations mined from literature

Literature associating MTHFS and autosomal dominant cutis laxa

MTHFS [ENSP00000258874]

5,10-methenyltetrahydrofolate synthetase (5-formyltetrahydrofolate cyclo-ligase); Contributes to tetrahydrofolate metabolism. Helps regulate carbon flow through the folate-dependent one-carbon metabolic network that supplies carbon for the biosynthesis of purines, thymidine and amino acids. Catalyzes the irreversible conversion of 5-formyltetrahydrofolate (5-FTHF) to yield 5,10- methenyltetrahydrofolate.

Synonyms:  MTHFS,  H3BN04,  P49914,  Q96EE9,  H3BN04p ...

Linkouts:  STRING  Pharos  UniProt  OMIM