DISEASES

Disease-gene associations mined from literature

Literature associating MID1 and Bardet-Biedl syndrome 2

MID1 [ENSP00000312678]

RING-type E3 ubiquitin transferase Midline-1; Has E3 ubiquitin ligase activity towards IGBP1, promoting its monoubiquitination, which results in deprotection of the catalytic subunit of protein phosphatase PP2A, and its subsequent degradation by polyubiquitination; Belongs to the TRIM/RBCC family.

Synonyms:  MID1,  MID1p,  hMID1,  A0A024RBV4,  C9J453 ...

Linkouts:  STRING  Pharos  UniProt  OMIM