DISEASES

Disease-gene associations mined from literature

Literature associating TMTC3 and lissencephaly

TMTC3 [ENSP00000266712]

Protein O-mannosyl-transferase TMTC3; Transfers mannosyl residues to the hydroxyl group of serine or threonine residues. The 4 members of the TMTC family are O-mannosyl- transferases dedicated primarily to the cadherin superfamily, each member seems to have a distinct role in decorating the cadherin domains with O-linked mannose glycans at specific regions. Also acts as O- mannosyl-transferase on other proteins such as PDIA3 . Involved in the positive regulation of proteasomal protein degradation in the endoplasmic reticulum (ER), and the control of ER stress response.

Synonyms:  TMTC3,  TMTC3p,  hTMTC3,  F8VR71,  F8VRY4 ...

Linkouts:  STRING  Pharos  UniProt