Disease-gene associations mined from literature

Literature associating ADI1 and Leber hereditary optic neuropathy and dystonia

ADI1 [ENSP00000333666]

Membrane-type 1 matrix metalloproteinase cytoplasmic tail-binding protein 1; Catalyzes the formation of formate and 2-keto-4- methylthiobutyrate (KMTB) from 1,2-dihydroxy-3-keto-5- methylthiopentene (DHK-MTPene). Also down-regulates cell migration mediated by MMP14. Necessary for hepatitis C virus replication in an otherwise non-permissive cell line.

Synonyms:  ADI1,  ADI1p,  hADI1,  Q9BV57,  APL1 ...

Linkouts:  STRING  Pharos  UniProt  OMIM