KLC2

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Template:Short description Template:Cs1 config Template:Infobox gene Kinesin light chain 2 is a protein that in humans is encoded by the KLC2 gene.[1][2] This gene is responsible for SPOAN syndrome, a type of hereditary spastic paraplegia.[3][4]

Interactions

KLC2 has been shown to interact with MAPK8IP3[5] and KIF5B.[1][6]

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.[7] The name derives from an acronym for spastic paraplegia, optic atrophy, and peripheral neuropathy (SPOAN), the symptoms characteristic to the syndrome.[3] The cause is a homozygous deletion of 216 base pairs in KLC2 regulatory region.[8] 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.[9]

References

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Further reading

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