Article
A kinesin heavy chain (KIF5A) mutation in hereditary spastic paraplegia (SPG10).
American journal of human genetics - 1 Nov 2002
Reid Evan, Kloos Mark, Ashley-Koch Allison, Hughes Lori, Bevan Simon, Svenson Ingrid K, Graham Felicia Lennon, Gaskell Perry C, Dearlove Andrew, Pericak-Vance Margaret A, Rubinsztein David C, Marchuk Douglas A
Abstract excerpt
We have identified a missense mutation in the motor domain of the neuronal kinesin heavy chain gene KIF5A, in a family with hereditary spastic paraplegia. The mutation occurs in the family in which the SPG10 locus was originally identified, at an invariant asparagine residue that, when mutated in orthologous kinesin heavy chain motor proteins, prevents stimulation of the motor ATPase by microtubule-binding....
Topics
- Amino Acid Sequence
- Animals
- Axons
- Female
- Humans
- Kinesins
- Male
- Molecular Sequence Data
- Mutation
- Pedigree
- Sequence Alignment