DISEASES

Disease-gene associations mined from literature

Literature associating POMT1 and autosomal recessive limb-girdle muscular dystrophy type 2K

POMT1 [ENSP00000361302]

Protein O-mannosyl-transferase 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 (PubMed:12369018, PubMed:14699049, PubMed:28512129). Essentially dedicated to O-mannosylation of alpha- DAG1 and few other proteins but not of cadherins and protocaherins ; Belongs to the glycosyltransferase 39 family.

Synonyms:  POMT1,  POMT1p,  hPOMT1,  A0A140VKE0,  Q5JSZ6 ...

Linkouts:  STRING  Pharos  UniProt  OMIM