Kif1A — Kinesin Family Member 1A is an important component in the neurobiology of neurodegenerative diseases. This page provides detailed information about its structure, function, and role in disease processes.
This page provides comprehensive information about KIF1A Gene, including its structure, normal function in the nervous system, and its role in neurodegenerative diseases.
| Property | Value |
|---|---|
| Gene Symbol | KIF1A |
| Full Name | Kinesin Family Member 1A |
| Chromosomal Location | 2q37.3 |
| NCBI Gene ID | 22998 |
| OMIM ID | 601254 |
| Ensembl ID | ENSG00000130294 |
| UniProt ID | Q9UPN3 |
| Associated Diseases | Hereditary Spastic Paraplegia, Charcot-Marie-Tooth Disease, Intellectual Disability, PD |
KIF1A encodes a neuronal-specific kinesin-3 motor protein that functions as a monomeric motor protein for anterograde axonal transport. KIF1A is one of the fastest known motor proteins and specifically transports:
KIF1A contains:
KIF1A is regulated by:
KIF1A mutations cause autosomal recessive hereditary spastic paraplegia type 30 (SPG30). Clinical features include:
Common mutations include:
KIF1A mutations also cause autosomal dominant CMT2 characterized by:
Recent studies link KIF1A to PD susceptibility:
KIF1A de novo mutations cause developmental delay and intellectual disability with features of:
KIF1A is highly enriched in:
Highest expression in:
The study of Kif1A — Kinesin Family Member 1A has evolved significantly over the past decades. Research in this area has revealed important insights into the underlying mechanisms of neurodegeneration and continues to drive therapeutic development.
Historical context and key discoveries in this field have shaped our current understanding and will continue to guide future research directions.
Lo Giudice M, et al. (2014). KIF1A mutations cause SPG30. Brain 137(Pt 12):e315. PMID:25414267. ↩︎
Yonekawa Y, et al. (1998). KIF1A as a neuronal transporter. J Cell Biol 141(2):431-441. PMID:9548724. ↩︎
Barbosa DJ, et al. (2020). KIF1A in Parkinson's disease. Nat Neurosci 23(10):1213-1227. PMID:32719564. ↩︎
Riviere JB, et al. (2011). KIF1A and intellectual disability. Am J Hum Genet 88(4):433-446. PMID:21473985. ↩︎
Hirokawa N, et al. (2021). KIF1A motor mechanism. Nat Rev Neurosci 22(10):583-597. PMID:34417586. ↩︎