katanin regulatory subunit B1
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Diagnostic Grade (Green)
DDG2P
BIALLELIC, autosomal or pseudoautosomalFetal anomalies
BIALLELIC, autosomal or pseudoautosomalMalformations of cortical development
BIALLELIC, autosomal or pseudoautosomalEarly onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalIntellectual disability
BIALLELIC, autosomal or pseudoautosomalmicrolissencephaly
Lissencephaly
hereditary disease
Lissencephaly syndrome, Norman-Roberts type
placenta praevia
Intellectual disability
spermatogenic failure
neoplasm
non-syndromic male infertility due to sperm motility disorder
male infertility with azoospermia or oligozoospermia due to single gene mutation
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Katanin p80 WD40 repeat-containing subunit B1
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
KATNB1 · Q9BVA0
Mean pLDDT
79.4/ 100
Confident
655 residues
Confidence breakdown
AlphaFold (Jumper et al., 2021) · CC BY 4.0
