KIF1C Chromosome 17
Kinesin family member 1C
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What This Gene Does
The protein encoded by this gene is a member of the kinesin-like protein family. The family members are microtubule-dependent molecular motors that transport organelles within cells and move chromosomes during cell division. Mutations in this gene are a cause of spastic ataxia 2, autosomal recessive. [provided by RefSeq, May 2014]
Gene Info
Gene Group
Kinesins
Locus Type
gene with protein product
Location
17p13.2
Ensembl
ENSG00000129250
Associated Conditions (21)
Spastic ataxia 2
Inborn genetic diseases
Hereditary spastic paraplegia
KIF1C-related disorder
Ovarian serous cystadenocarcinoma
Colorectal cancer
Acute myeloid leukemia
Microcephaly
Clear cell carcinoma of kidney
Melanoma
Lung cancer
Sarcoma
Gastric cancer
Thymoma
Malignant tumor of esophagus
Cervical cancer
Hepatocellular carcinoma
Uterine carcinosarcoma
Cerebellar ataxia
Intellectual disability
+1 more conditions
Key Variants
RS1002320182
Conflicting classifications of pathogenicity
Spastic ataxia 2, Inborn genetic diseases, Spastic ataxia 2
Health Risk
RS1057523116
Conflicting classifications of pathogenicity
Spastic ataxia 2, Spastic ataxia 2
Health Risk
RS118037269
Conflicting classifications of pathogenicity
Hereditary spastic paraplegia, Spastic ataxia 2, KIF1C-related disorder
Health Risk
RS139663513
Conflicting classifications of pathogenicity
Hereditary spastic paraplegia, Spastic ataxia 2, Hereditary spastic paraplegia
Health Risk
RS141189136
Conflicting classifications of pathogenicity
Spastic ataxia 2, Microcephaly, Inborn genetic diseases
Health Risk
RS142046798
Conflicting classifications of pathogenicity
Spastic ataxia 2, Hereditary spastic paraplegia, Spastic ataxia 2
Health Risk
RS142056835
Conflicting classifications of pathogenicity
Hereditary spastic paraplegia, Spastic ataxia 2, Clear cell carcinoma of kidney
Health Risk
RS142513387
Conflicting classifications of pathogenicity
Spastic ataxia 2, Inborn genetic diseases, Spastic ataxia 2
Health Risk
RS142773987
Conflicting classifications of pathogenicity
Spastic ataxia 2, Hereditary spastic paraplegia, Spastic ataxia 2
Health Risk
RS142825776
Conflicting classifications of pathogenicity
Spastic ataxia 2, Hereditary spastic paraplegia, Spastic ataxia 2
Health Risk
RS143972053
Conflicting classifications of pathogenicity
Spastic ataxia 2, Hereditary spastic paraplegia, Hepatocellular carcinoma
Health Risk
RS145650252
Conflicting classifications of pathogenicity
Spastic ataxia 2, Hereditary spastic paraplegia, Inborn genetic diseases
Health Risk
All Variants (66)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1131690773 | Health Risk | Pathogenic | Spastic ataxia 2, Spastic ataxia 2 |
| RS1597846084 | Health Risk | Pathogenic | Cerebellar ataxia, Intellectual disability, Cerebellar ataxia |
| RS1974690294 | Health Risk | Pathogenic | Spastic ataxia 2, Spastic ataxia 2 |
| RS2143312682 | Health Risk | Pathogenic | Spastic ataxia 2, Spastic ataxia 2 |
| RS2143313439 | Health Risk | Pathogenic | Spastic ataxia 2, Spastic ataxia 2 |
| RS2143317762 | Health Risk | Pathogenic | Spastic ataxia 2, Spastic ataxia 2 |
| RS2143317920 | Health Risk | Pathogenic | Spastic ataxia 2, Spastic ataxia 2 |
| RS2143323595 | Health Risk | Pathogenic | Spastic ataxia 2, Spastic ataxia 2 |
| RS2143382149 | Health Risk | Pathogenic | Abnormal central motor function, Abnormal central motor function |
| RS2508151761 | Health Risk | Pathogenic | — |
| RS2508162210 | Health Risk | Pathogenic | Spastic ataxia 2, Spastic ataxia 2 |
| RS587777197 | Health Risk | Pathogenic | Spastic ataxia 2, KIF1C-related disorder, Spastic ataxia 2 |
| RS774939814 | Health Risk | Pathogenic | Spastic ataxia 2, Spastic ataxia 2 |
| RS1456471745 | Health Risk | Pathogenic/Likely pathogenic | Spastic ataxia 2, Spastic ataxia 2 |
| RS1974586605 | Health Risk | Pathogenic/Likely pathogenic | — |
| RS772475828 | Health Risk | Pathogenic/Likely pathogenic | Spastic ataxia 2, Spastic ataxia 2 |