Katanin catalytic subunit A1 like 1 (KATNAL1)

Katanin catalytic subunit A1 like 1 (KATNAL1) is an ATPase and microtubule-severing enzyme, closely related to the canonical katanin p60, with approximately 66% identity and 78% conservation. It functions as part of the katanin complex and is important for cytoskeletal reorganization, particularly in processes such as spermiogenesis in Sertoli cells and various aspects of neural development and function. Loss-of-function mutations in KATNAL1 can cause male infertility (azoospermia) by disrupting Sertoli cell microtubule dynamics and sperm retention. In the central nervous system, KATNAL1 is essential for neuronal migration, brain morphology, and maintenance of motile cilia in ependymal cells, and mutations have been associated with behavioral, circadian, and neurodevelopmental phenotypes such as intellectual disability, microcephaly, and possibly schizophrenia and autism. No therapeutic drugs are currently reported to directly interact with this protein, and it is not regarded as a validated therapeutic target at present.

Other names

Katanin p60 ATPase-containing subunit A-like 1KATNAL1Katanin p60 subunit A-like 1MGC2599p60 katanin-like 1katanin p60 ATPase-containing subunit A-like 1katanin catalytic subunit A like 1katanin p60 subunit A like 1