Identity
HGNC
LOCATION
2q37.3
LOCUSID
ALIAS
ATSV,C2orf20,HSN2C,MRD9,NESCAVS,SPG30,UNC104
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 547
MIM: 601255
HGNC: 888
Ensembl: ENSG00000130294
Variants:
dbSNP: 547
ClinVar: 547
TCGA: ENSG00000130294
COSMIC: KIF1A
RNA/Proteins
Expression (GTEx)
Pathways
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 36282036 | 2024 | KIF1A novel frameshift variant p.(Ser887Profs*64) exhibits clinical heterogeneity in a Pakistani family with hereditary sensory and autonomic neuropathy type IIC. | 0 |
| 36282036 | 2024 | KIF1A novel frameshift variant p.(Ser887Profs*64) exhibits clinical heterogeneity in a Pakistani family with hereditary sensory and autonomic neuropathy type IIC. | 0 |
| 36655764 | 2023 | Insight into the regulation of axonal transport from the study of KIF1A-associated neurological disorder. | 7 |
| 36972935 | 2023 | [Analysis of KIF1A gene variant in a Chinese pedigree affected with Spastic paraplegia type 30]. | 1 |
| 37001573 | 2023 | Identification of an in-frame homozygous KIF1A variant causing a mild SPG30 phenotype in a Korean family. | 0 |
| 37668235 | 2023 | [KIF1A gene-associated neurological disease: the correlation between genotype and phenotype]. | 0 |
| 38105687 | 2023 | Autosomal dominant neurodevelopmental disorders associated with KIF1A gene variants in 6 pediatric patients. | 0 |
| 36655764 | 2023 | Insight into the regulation of axonal transport from the study of KIF1A-associated neurological disorder. | 7 |
| 36972935 | 2023 | [Analysis of KIF1A gene variant in a Chinese pedigree affected with Spastic paraplegia type 30]. | 1 |
| 37001573 | 2023 | Identification of an in-frame homozygous KIF1A variant causing a mild SPG30 phenotype in a Korean family. | 0 |
| 37668235 | 2023 | [KIF1A gene-associated neurological disease: the correlation between genotype and phenotype]. | 0 |
| 38105687 | 2023 | Autosomal dominant neurodevelopmental disorders associated with KIF1A gene variants in 6 pediatric patients. | 0 |
| 34487232 | 2022 | Monoallelic KIF1A-related disorders: a multicenter cross sectional study and systematic literature review. | 9 |
| 35033353 | 2022 | KLF5 promotes KIF1A expression through transcriptional repression of microRNA-338 in the development of pediatric neuroblastoma. | 2 |
| 35132656 | 2022 | A neuropathy-associated kinesin KIF1A mutation hyper-stabilizes the motor-neck interaction during the ATPase cycle. | 8 |
Citation
Dessen P
KIF1A (kinesin family member 1A)
Atlas Genet Cytogenet Oncol Haematol. 2015-02-01
Online version: http://atlasgeneticsoncology.org/gene/55077/kif1a-(kinesin-family-member-1a)
