This report describes spastic paraplegia 10 (SPG10), which is a subtype of spastic paraplegia; SPG10 exhibits autosomal dominant inheritance. The human gene implicated in this disease is KIF5A, a kinesin heavy chain gene. KIF5A is one of three human genes orthologous to the Drosophila gene Khc. Classical amorphic and loss-of-function alleles, RNAi-targeting constructs, and alleles caused by insertional mutagenesis are available for Dmel\Khc.
The human KIF5A gene has not been introduced into flies.
Amorphic (null) mutations of Dmel\Khc are lethal when homozygous. SPG10 is modeled by an allele of Khc with a missense mutation that corresponds to a variant that is associated with spastic paraplegia in the human gene. Variant(s) implicated in human disease tested (as analogous mutation in fly gene): N262S in the fly Khc gene (corresponds to N256S in the human KIF5A gene). Genetic and physical interaction(s) of the Dmel\Khc gene and protein product have been described; see below and in the gene report for Khc.
[updated Jan. 2017 by FlyBase; FBrf0222196]