KATNA1
Description
The KATNA1 (katanin catalytic subunit A1) is a protein-coding gene located on chromosome 6.
KATNA1, also known as Katanin p60 ATPase-containing subunit A1, is an enzyme encoded by the human KATNA1 gene. Microtubules, polymers of alpha and beta tubulin subunits, play a vital role in cell division and organization. Katanin, a heterodimer composed of a 60 kDa ATPase (p60 subunit A 1) and an 80 kDa accessory protein (p80 subunit B 1), is involved in microtubule severing and disassembly. The p60 subunit, encoded by KATNA1, is responsible for microtubule severing, while the p80 subunit targets the enzyme to the centrosome. KATNA1 belongs to the AAA family of ATPases.
KATNA1 is the catalytic subunit of a complex that severs microtubules in an ATP-dependent manner. This process promotes rapid reorganization of microtubule arrays within cells, allowing for microtubule release from the centrosome after nucleation. During mitosis, microtubule release from spindle poles enables depolymerization of the microtubule end closest to the pole, contributing to poleward microtubule flux and chromosome movement. In neurons, microtubule release within the cell body facilitates transport of microtubules into neuronal processes by motor proteins, which is essential for axonal growth.
KATNA1 is also known as -.
Associated Diseases
- 46,XX testicular disorder of sex development
- familial male-limited precocious puberty
- X-linked intellectual disability-macrocephaly-macroorchidism syndrome
- 46,XY complete gonadal dysgenesis
- isolated congenital hypogonadotropic hypogonadism
- spastic paraplegia-precocious puberty syndrome
- partial chromosome Y deletion
- 46,XX ovotesticular disorder of sex development
- spermatogenic failures 50
- testicular agenesis
- spermatogenic failure 25
- isochromosomy Yq
- isochromosomy Yp
