| Entrez Gene ID | 547 |
|---|---|
| Official Gene Symbol | KIF1A (GeneCards) |
| Full name | kinesin family member 1A |
| Location | 2q37.3 |
| Other ids | Vega : OTTHUMG00000151940 MIM : 601255 HGNC : HGNC:888 Ensembl : ENSG00000130294 |
| Other names | ATSV, MRD9, HSN2C, SPG30, UNC104, C2orf20 |
| Summary | The protein encoded by this gene is a member of the kinesin family and functions as an anterograde motor protein that transports membranous organelles along axonal microtubules. Mutations at this locus have been associated with spastic paraplegia-30 and hereditary sensory neuropathy IIC. Alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Apr 2012] |
Found 2 variants in this database.
| Variant ID | Entrez Gene ID | Gene | Chromsome | Start | End | Disease | Method |
|---|---|---|---|---|---|---|---|
| 1407 | 547 | KIF1A | 2 | 241724471 | 241724471 | Autism Spectrum Disorders | NextSeq500 v2 |
| 29736 | 547 | KIF1A | 2 | 241724471 | 241724471 | Autism Spectrum Disorders | NextSeq500 v2 NextSeq500 |