KIF1B Chromosome 1
Kinesin family member 1B
Upload your DNA to see your personal genotypes for variants in KIF1B.
What This Gene Does
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, Jul 2025]
Gene Info
Gene Group
"Kinesins|Pleckstrin homology domain containing|MicroRNA protein coding host genes"
Locus Type
gene with protein product
Location
1p36.22
Ensembl
ENSG00000054523
Associated Conditions (23)
Charcot-Marie-Tooth disease type 2
Neuroblastoma
susceptibility to
1
Malignant tumor of breast
Charcot-Marie-Tooth disease
KIF1B-related disorder
Charcot-Marie-Tooth disease type 2A1
Meniere disease
Pheochromocytoma
Adult-onset proximal spinal muscular atrophy
autosomal dominant
Hereditary cancer-predisposing syndrome
Malignant tumor of esophagus
Gait ataxia
Hereditary cancer
Gastric cancer
Cervical cancer
Ovarian cancer
Multiple endocrine neoplasia type 2A
+3 more conditions
Key Variants
RS1035373795
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
Health Risk
RS1188099847
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
Health Risk
RS1205403546
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
Health Risk
RS1217853804
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
Health Risk
RS121908162
Conflicting classifications of pathogenicity
Neuroblastoma, susceptibility to, 1
Health Risk
RS121908163
Conflicting classifications of pathogenicity
Neuroblastoma, susceptibility to, 1
Health Risk
RS1279435643
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
Health Risk
RS1320246121
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
Health Risk
RS1342716199
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
Health Risk
RS1345626148
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
Health Risk
RS1391892586
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
Health Risk
RS1394199064
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
Health Risk
All Variants (148)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS368307458 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease type 2, Pheochromocytoma, Charcot-Marie-Tooth disease type 2 |
| RS368327839 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS372491552 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2 |
| RS373698346 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2A1 |
| RS374098797 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 2A1 |
| RS374303355 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease type 2, Gait ataxia, Charcot-Marie-Tooth disease type 2 |
| RS375130478 | Health Risk | Conflicting classifications of pathogenicity | Neuroblastoma, Charcot-Marie-Tooth disease type 2, Neuroblastoma |
| RS375149695 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2 |
| RS375389310 | Health Risk | Conflicting classifications of pathogenicity | Neuroblastoma, Charcot-Marie-Tooth disease type 2, Neuroblastoma |
| RS376471111 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease |
| RS376558549 | Health Risk | Conflicting classifications of pathogenicity | KIF1B-related disorder, Neuroblastoma, susceptibility to |
| RS41274460 | Health Risk | Conflicting classifications of pathogenicity | Neuroblastoma, susceptibility to, 1 |
| RS41274468 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2A1, Charcot-Marie-Tooth disease |
| RS538135467 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2 |
| RS543345616 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2 |
| RS549614550 | Health Risk | Conflicting classifications of pathogenicity | Neuroblastoma, Neuroblastoma |
| RS551392566 | Health Risk | Conflicting classifications of pathogenicity | Neuroblastoma, Neuroblastoma |
| RS552529704 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease |
| RS556099463 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2 |
| RS556117169 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2 |
| RS560710521 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2 |
| RS573774777 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2 |
| RS574168097 | Health Risk | Conflicting classifications of pathogenicity | Neuroblastoma, Charcot-Marie-Tooth disease type 2, Neuroblastoma |
| RS574858597 | Health Risk | Conflicting classifications of pathogenicity | Neuroblastoma, Neuroblastoma |
| RS574859747 | Health Risk | Conflicting classifications of pathogenicity | Neuroblastoma, Neuroblastoma |
| RS58344165 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease, Gastric cancer, Cervical cancer |
| RS746980680 | Health Risk | Conflicting classifications of pathogenicity | Neuroblastoma, Charcot-Marie-Tooth disease type 2, Neuroblastoma |
| RS748192983 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2 |
| RS748616468 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2 |
| RS749154726 | Health Risk | Conflicting classifications of pathogenicity | Neuroblastoma, Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 2 |
| RS749389756 | Health Risk | Conflicting classifications of pathogenicity | Neuroblastoma, Charcot-Marie-Tooth disease type 2, KIF1B-related disorder |
| RS751084365 | Health Risk | Conflicting classifications of pathogenicity | Neuroblastoma, Charcot-Marie-Tooth disease type 2, KIF1B-related disorder |
| RS752044197 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS752648536 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2 |
| RS752674254 | Health Risk | Conflicting classifications of pathogenicity | Neuroblastoma, Charcot-Marie-Tooth disease type 2, Neuroblastoma |
| RS753279755 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2 |
| RS753477704 | Health Risk | Conflicting classifications of pathogenicity | Ovarian cancer, Neuroblastoma, susceptibility to |
| RS754121148 | Health Risk | Conflicting classifications of pathogenicity | Neuroblastoma, Charcot-Marie-Tooth disease type 2, Neuroblastoma |
| RS754234374 | Health Risk | Conflicting classifications of pathogenicity | Neuroblastoma, Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2A1 |
| RS755850268 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease type 2, Multiple endocrine neoplasia type 2A, Charcot-Marie-Tooth disease type 2 |
| RS755866386 | Health Risk | Conflicting classifications of pathogenicity | Neuroblastoma, Charcot-Marie-Tooth disease type 2, Neuroblastoma |
| RS756643992 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2 |
| RS756935623 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease |
| RS757899517 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2A1, Neuroblastoma |
| RS758389718 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2 |
| RS758879647 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2A1, Neuroblastoma |
| RS760253167 | Health Risk | Conflicting classifications of pathogenicity | Neuroblastoma, Charcot-Marie-Tooth disease type 2, Neuroblastoma |
| RS760368705 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease type 2, KIF1B-related disorder, Charcot-Marie-Tooth disease type 2 |
| RS761319935 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2 |
| RS761343609 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease type 2, Neuroblastoma, Pheochromocytoma |