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LIS6

Chr 16AR

katanin regulatory subunit B1

Also known as: KAT, LIS6

NCBI Gene: 10300 OMIM: 616212

The protein is the p60 catalytic subunit of katanin, an AAA family ATPase that severs and disassembles microtubules, while its p80 partner subunit targets the enzyme to the centrosome. Mutations cause lissencephaly 6 with microcephaly, a severe developmental brain malformation affecting cortical formation and resulting in intellectual disability and seizures. This condition follows autosomal recessive inheritance.

OMIM ResearchSummary from RefSeq, OMIM

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]

OMIM ResearchGenerating clinical summary…