Disease-gene associations mined from literature

Literature associating POMT1 and epidermolysis bullosa simplex with mottled pigmentation

POMT1 [ENSP00000361302]

Dolichyl-phosphate-mannose--protein mannosyltransferase 1; Transfers mannosyl residues to the hydroxyl group of serine or threonine residues. Coexpression of both POMT1 and POMT2 is necessary for enzyme activity, expression of either POMT1 or POMT2 alone is insufficient; Dolichyl D-mannosyl phosphate dependent mannosyltransferases

Synonyms:  POMT1,  POMT1p,  hPOMT1,  B4DWD8,  F5H3Z3 ...

Linkouts:  STRING  Pharos  UniProt  OMIM