KIF5A is a subunit of a protein that helps transport substances inside cells. Disease-causing mutations in KIF5A are passed down in an autosomal dominant pattern of inheritance, which means that at least one parent of an affected individual would be a carrier of a copy of the defective gene. The location of the mutation in KIF5A is the deciding factor as to what disease develops in the affected individual. Variants in the N-terminal motor domain are chiefly linked to two neurodegenerative diseases i.e. hereditary spastic paraplegia (SPG10) and Charcot-Marie-Tooth type 2 (CMT2). On the other hand, variants in the C-terminal region have been linked to ALS (M Faruq et al, 2019).
KIF5A