Disease-gene associations mined from literature

Literature associating KATNB1 and beta-mannosidosis

KATNB1 [ENSP00000368982]

Katanin p80 (WD repeat containing) subunit B 1; Participates in a complex which severs microtubules in an ATP-dependent manner. May act to target the enzymatic subunit of this complex to sites of action such as the centrosome. Microtubule severing may promote rapid reorganization of cellular microtubule arrays and the release of microtubules from the centrosome following nucleation. Microtubule release from the mitotic spindle poles may allow depolymerization of the microtubule end proximal to the spindle pole, leading to poleward microtubule flux and poleward motion of chromosome. Microtubule release within the cell body of neurons may be required for their transport into neuronal processes by microtubule-dependent motor proteins. This transport is required for axonal growth; Belongs to the WD repeat KATNB1 family.

Synonyms:  KATNB1,  KATNB1p,  hKATNB1,  H3BPD8,  H3BPK1 ...

Linkouts:  STRING  Pharos  UniProt  OMIM