KIF1B kinesin family member 1B
Gene ID: 23095, updated on 2-Nov-2024Gene type: protein coding
Also known as: KLP; CMT2; CMT2A; CMT2A1; HMSNII; NBLST1
- See all available tests in GTR for this gene
- Go to complete Gene record for KIF1B
- Go to Variation Viewer for KIF1B variants
Summary
Enables plus-end-directed microtubule motor activity. Involved in apoptotic process involved in development and mitochondrion transport along microtubule. Is active in mitochondrion. Implicated in Charcot-Marie-Tooth disease type 2A1; hepatocellular carcinoma; multiple sclerosis; neuroblastoma; and ovary epithelial cancer. Biomarker of hepatocellular carcinoma. [provided by Alliance of Genome Resources, Nov 2024]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Charcot-Marie-Tooth disease type 2A1 | See labs |
| Genetic variation in the KIF1B locus influences susceptibility to multiple sclerosis. GeneReviews: Not available | |
| Genome-wide association study identifies 1p36.22 as a new susceptibility locus for hepatocellular carcinoma in chronic hepatitis B virus carriers. GeneReviews: Not available | |
| Neuroblastoma, susceptibility to, 1 | See labs |
| New gene functions in megakaryopoiesis and platelet formation. GeneReviews: Not available |
Genomic context
- Location:
- 1p36.22
- Sequence:
- Chromosome: 1; NC_000001.11 (10210570..10381603)
- Total number of exons:
- 52
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for KIF1B variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- IPN Mutations, KIF1B
- KIF1B homepage - Leiden Muscular Dystrophy pages
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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