KLC2 Chromosome 11

Kinesin light chain 2

3 variants 3 Health Risk

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What This Gene Does

The protein encoded by this gene is a light chain of kinesin, a molecular motor responsible for moving vesicles and organelles along microtubules. Defects in this gene are a cause of spastic paraplegia, optic atrophy, and neuropathy (SPOAN) syndrome. [provided by RefSeq, Mar 2016]

Gene Info

Gene Group

Tetratricopeptide repeat domain containing

Locus Type

gene with protein product

Location

11q13.2

Ensembl

ENSG00000174996

Associated Conditions (4)

Spastic paraplegia

optic atropy

and neuropathy

See cases

Key Variants

RS201517210

Conflicting classifications of pathogenicity

Health Risk

RS1554996989

Pathogenic

Spastic paraplegia, optic atropy, and neuropathy

Health Risk

RS2134783712

Pathogenic

See cases, See cases

Health Risk

All Variants (3)

RSID	Category	Clinical Significance	Conditions
RS201517210	Health Risk	Conflicting classifications of pathogenicity	—
RS1554996989	Health Risk	Pathogenic	Spastic paraplegia, optic atropy, and neuropathy
RS2134783712	Health Risk	Pathogenic	See cases, See cases