KIF21B Chromosome 1
Kinesin family member 21B
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What This Gene Does
This gene encodes a member of the kinesin superfamily. Kinesins are ATP-dependent microtubule-based motor proteins that are involved in the intracellular transport of membranous organelles. Single nucleotide polymorphisms in this gene are associated with inflammatory bowel disease and multiple sclerosis. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Nov 2011]
Gene Info
Gene Group
"WD repeat domain containing|Kinesins"
Locus Type
gene with protein product
Location
1q32.1
Ensembl
ENSG00000116852
Associated Conditions (1)
Neurodevelopmental disorder
Key Variants
All Variants (2)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS147761216 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS893498810 | Health Risk | Conflicting classifications of pathogenicity | Neurodevelopmental disorder, Neurodevelopmental disorder |