Disease-gene associations mined from literature

Literature associating FPGS and autosomal dominant cutis laxa

FPGS [ENSP00000362344]

Folylpolyglutamate synthase, mitochondrial; Catalyzes conversion of folates to polyglutamate derivatives allowing concentration of folate compounds in the cell and the intracellular retention of these cofactors, which are important substrates for most of the folate-dependent enzymes that are involved in one-carbon transfer reactions involved in purine, pyrimidine and amino acid synthesis. Unsubstituted reduced folates are the preferred substrates. Metabolizes methotrexate (MTX) to polyglutamates; Belongs to the folylpolyglutamate synthase family.

Synonyms:  FPGS,  Q05932,  Q5JU20,  Q5JU21,  Q5JU23 ...

Linkouts:  STRING  Pharos  UniProt  OMIM