Disease-gene associations mined from literature

Literature associating POMT2 and autosomal dominant Emery-Dreifuss muscular dystrophy 5

POMT2 [ENSP00000261534]

Dolichyl-phosphate-mannose--protein mannosyltransferase 2; 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; Belongs to the glycosyltransferase 39 family.

Synonyms:  POMT2,  POMT2p,  hPOMT2,  G3V4X9,  H0YJA9 ...

Linkouts:  STRING  Pharos  UniProt  OMIM