'Kinesinopathies': emerging role of the kinesin family member genes in birth defects.

ABSTRACT: Motor kinesins are a family of evolutionary conserved proteins involved in intracellular trafficking of various cargoes, first described in the context of axonal transport. They were discovered to have a key importance in cell-cycle dynamics and progression, including chromosomal condensation and alignment, spindle formation and cytokinesis, as well as ciliogenesis and cilia function. Recent evidence suggests that impairment of kinesins is associated with a variety of human diseases consistent with their functions and evolutionary conservation. Through the advent of gene identification using genome-wide sequencing approaches, their role in monogenic disorders now emerges, particularly for birth defects, in isolated as well as multiple congenital anomalies. We can observe recurrent phenotyp

SUBMITTER: Kalantari S 

PROVIDER: S-EPMC7691813 | biostudies-literature | 2020 Dec

REPOSITORIES: biostudies-literature