KATNB1

Chr 16

katanin regulatory subunit B1

Also known as: KAT, LIS6

NCBI Gene: 10300 ENSG00000140854 UniProt: Q9BVA0

The KATNB1 gene encodes the p80 regulatory subunit of katanin, a microtubule-severing enzyme where the p80 subunit targets the enzyme to the centrosome while the p60 subunit performs the ATPase-dependent microtubule severing. Biallelic mutations cause lissencephaly 6 with microcephaly, inherited in an autosomal recessive pattern. The pathogenic mechanism involves disrupted microtubule dynamics affecting neuronal migration and brain development.

ResearchSummary from RefSeq, OMIM, UniProt

Microtubules, polymers of alpha and beta tubulin subunits, form the mitotic spindle of a dividing cell and help to organize membranous organelles during interphase. Katanin is a heterodimer that consists of a 60 kDa ATPase (p60 subunit A 1) and an 80 kDa accessory protein (p80 subunit B 1). The p60 subunit acts to sever and disassemble microtubules, while the p80 subunit targets the enzyme to the centrosome. Katanin is a member of the AAA family of ATPases. [provided by RefSeq, Jul 2008]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtLissencephaly 6, with microcephaly

Clinical highlights

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype), though the gene is not strongly LoF-constrained in the population — weigh truncating variants against that tolerance.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.61

LOEUF

LOF

Mechanism· G2P

Some data sources returned errors (1)

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