KIFAP3 Antibody

1. This study does not show an influence of KIFAP3 variants on survival in the studied Swiss and Swedish cohort PMID: 28140676
2. Common genetic variation in the Kinesin-Associated Protein 3 (KIFAP3) gene (rs1541160) was reported to have a significant effect on survival in amyotrophic lateral sclerosis patients. PMID: 24838185
3. The incidence of the motor neuron-predominant amyotrophic lateral sclerosis phenotype in the patients of this cohort supports the hypothesis that the SNP within the KIFAP3 gene is a potential modifier of the amyotrophic lateral sclerosis phenotype PMID: 21659726
4. Data clearly show that SNP rs1541160 does not modify survival within cohort of 504 Italian ALS cases. PMID: 20566859
5. Kinesin-2 plays a role in the KDEL-R-/COPI-dependent retrograde transport pathway from the Golgi complex to the ER. PMID: 17113389
6. KAP3 sequestration by misfolded SOD1 and the inhibition of ChAT transport play a role in the dysfunction of amyotrophic lateral sclerosis. PMID: 19088126
7. a variant within the KIFAP3 gene that is associated with decreased KIFAP3 expression and increased survival in sporadic ALS was identified. PMID: 19451621

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HGNC: 17060

OMIM: 601836

KEGG: hsa:22920

STRING: 9606.ENSP00000354560

UniGene: Hs.433442