Disease-gene associations mined from literature

Literature associating OBSL1 and Dubowitz syndrome

OBSL1 [ENSP00000385636]

Obscurin-like protein 1; Core component of the 3M complex, a complex required to regulate microtubule dynamics and genome integrity. It is unclear how the 3M complex regulates microtubules, it could act by controlling the level of a microtubule stabilizer. Acts as a regulator of the Cul7-RING(FBXW8) ubiquitin-protein ligase, playing a critical role in the ubiquitin ligase pathway that regulates Golgi morphogenesis and dendrite patterning in brain. Required to localize CUL7 to the Golgi apparatus in neurons; I-set domain containing

Synonyms:  OBSL1,  OBSL1p,  hOBSL1,  A6NN50,  A8MSZ8 ...

Linkouts:  STRING  Pharos  UniProt  OMIM