KLC2

Kinesin light chain 2 is a protein that in humans is encoded by the KLC2 gene. This gene is responsible for SPOAN syndrome, a type of hereditary spastic paraplegia.

Interactions

KLC2 has been shown to interact with MAPK8IP3 and KIF5B.

SPOAN syndrome

SPOAN syndrome was first discovered by a research group led by Silvana Santos in the Serrinha dos Pintos area of Northeast Brazil known for high levels of inbreeding. The name derives from an acronym for spastic paraplegia, optic atrophy, and peripheral neuropathy, the symptoms characteristic to the syndrome.
The cause is a homozygous deletion of 216 base pairs in KLC2 regulatory region.
This homozygous deletion has been found in more than 70 individuals from Rio Grande do Norte backlands and siblings in Egypt; the mutation origin was in Iberian Peninsula over 485 years ago.