KIF3B Chromosome 20

Kinesin family member 3B

3 variants 3 Health Risk

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What This Gene Does

The protein encoded by this gene acts as a heterodimer with kinesin family member 3A to aid in chromosome movement during mitosis and meiosis. The encoded protein is a plus end-directed microtubule motor and can interact with the SMC3 subunit of the cohesin complex. In addition, the encoded protein may be involved in the intracellular movement of membranous organelles. This protein and kinesin family member 3A form the kinesin II subfamily of the kinesin superfamily. [provided by RefSeq, Jul 2008]

Gene Info

Gene Group

Kinesins

Locus Type

gene with protein product

Location

20q11.21

Ensembl

ENSG00000101350

Associated Conditions (2)

Oligospermia

Retinitis pigmentosa 89

Key Variants

RS2047796277

association

Oligospermia, Oligospermia

Health Risk

RS2047794498

Pathogenic

Retinitis pigmentosa 89, Retinitis pigmentosa 89

Health Risk

RS2047828707

Pathogenic

Retinitis pigmentosa 89, Retinitis pigmentosa 89

Health Risk

All Variants (3)

RSID	Category	Clinical Significance	Conditions
RS2047796277	Health Risk	association	Oligospermia, Oligospermia
RS2047794498	Health Risk	Pathogenic	Retinitis pigmentosa 89, Retinitis pigmentosa 89
RS2047828707	Health Risk	Pathogenic	Retinitis pigmentosa 89, Retinitis pigmentosa 89