KIF7 Monoclonal Antibody

1. two children who both had two missense mutations in the Kinesin Family Member 7 (KIF7) gene, are reported. PMID: 26174511
2. Kif7 may contribute to pathogenesis of gestational trophoblastic disease through enhancing survival and promoting dissemination of trophoblasts. PMID: 25265279
3. We identified a Turkish family who had a novel homozygous sequence change, c.2593-2A>C, located at the acceptor splice site of intron 12 of KIF7 (IVS12-2A>C). PMID: 25714560
4. results suggested that PPFIA1 functioned with PP2A to promote the dephosphorylation of Kif7, triggering Kif7 localization to the tips of primary cilia and promoting Gli transcriptional activity. PMID: 25492966
5. Studied the ExoS to identify unknown cellular targets associated with ExoS-induced cytotoxicity in a P. aeruginosa infection model.A pull-down assay revealed that ExoS bound the truncated KIF7 gene encoding the N-terminal domain (residues 1-109) of KIF7. PMID: 24462444
6. six novel mutations were identified at the KIF7 locus in five suspected Acrocallosal syndrome cases PMID: 23125460
7. This study confirms that KIF7 mutations can cause acrocallosal syndrome. PMID: 23142271
8. report the first missense homozygous disease-causing mutation in KIF7 and expand the clinical spectrum associated with mutations in this gene to include multiple epiphyseal dysplasia PMID: 22587682
9. The high-resolution structure of the human KIF7 motor domain is reported and is compared with that of conventional kinesin, the founding member of the kinesin superfamily. PMID: 22281744
10. Data report mutations in the KIF7 gene, a known regulator of sonic hedgehog signaling and a putative ciliary motor protein, in Joubert syndrome patients. PMID: 21633164
11. Our data show the role of KIF7 in human primary cilia, especially in the Hedgehog pathway through the regulation of GLI targets, and expand the clinical spectrum of ciliopathies. PMID: 21552264

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HGNC: 30497

OMIM: 200990

KEGG: hsa:374654

STRING: 9606.ENSP00000377934

UniGene: Hs.513134