Recombinant Human Kinesin-like protein KIF21A (KIF21A), partial

1. Several key residues (i.e. Thr-1147, Leu-1152, Leu-1153, and Tyr-1154) at the C-terminal half of the KIF21A KBD peptide contact with the hydrophobic patch formed by Tyr-1176, Met-1209, Leu-1210, Leu-1213, and Leu-1248 from KANK1. PMID: 29158259
2. We describe a recurrent (c.2860C>T) missense KIF21A mutation identified in a Chinese family with CFEOM1 (congenital fibrosis of the extraocular muscles type 1) phenotypes. PMID: 28930843
3. A heterozygous mutation, c.2860C>T (p.R954W), in KIF21A was identified in two families with congenital fibrosis of the extraocular muscles type 1 and 3, and this was cosegregated with the presence of the diseases in the two families, however, it was absent in the 200 normal control subjects. PMID: 27513105
4. We explain the phenotypic findings associated with mutations in KIF21A PMID: 26190014
5. Germline mosaicism of KIF21A c.2860C>T is likely to cause the high occurrence of this mutation in the population. PMID: 24426772
6. This study demonistrated that the interaction between Kif21a and Map1b is likely to play a critical role in the pathogenesis of CFEOM1 and highlights a selective vulnerability of the developing oculomotor nerve to perturbations of the axon cytoskeleton. PMID: 24656932
7. CFEOM1-associated mutations relieve autoinhibition of the KIF21A motor, and this results in enhanced KIF21A accumulation in axonal growth cones, aberrant axon morphology, and reduced responsiveness to inhibitory cues. PMID: 24120883
8. The data of this study suggested that KIF21A gene expression could have a role on the axonal transport and the development of the nervous system with implications on the resulting phenotype of subjects with Down syndrome. PMID: 22968744
9. Congenital fibrosis of extraocular muscle assciated with KIF21A mutation. PMID: 23535681
10. The diffuse and widespread expression of KIF21A in the developing human and mouse central and peripheral nervous system as well as in extraocular muscle does not account for the restricted ocular phenotype observed in Congenital fibrosis of the extraocular muscles type 1. PMID: 22465342
11. Expression of RRP1B, PCNT, KIF21A and ADRB2 in leucocytes of Down's syndrome subjects, was analyzed. PMID: 22552340
12. This study indicated that KIF21A-mediated axonal transport and selective somatodendritic endocytosis underlie the axonal polarized surface expression of NCKX2. PMID: 22442075
13. KIF21A novel deletion and recurrent mutation have been fonund in Chinese patients with congenital fibrosis of the extraocular muscles-1. PMID: 21805025
14. This Chinese family with congenital fibrosis of the extraocular muscles type I(CFEOM1) may be caused by a c.2860C to T mutation in the KIF21A gene. PMID: 21983718
15. patients with congenital fibrosis of the extraocular muscles type I patients from consanguineous Saudi Arabian families do not have KIF21A mutations PMID: 21264235
16. The observation of these two KIF21A mutations in a Chinese pedigree underscores the homogeneity of these mutations as a cause of congenital fibrosis of the extraocular muscles CFEOM1 and CFEOM3 across ethnic divisions. PMID: 21042561
17. Parental germline mosaicism can mimic recessive inheritance in congenital fibrosis of the extraocular muscles (CFEOM) and likely is underrecognized. PMID: 19896199
18. Surgery is effective at improving ptosis in the majority of patients with classic CFEOM (congenital fibiosis of the extraocular muscles). PMID: 12702216
19. Heterozygous mutations of the kinesin KIF21A is associated with congenital fibrosis of the extraocular muscles type 1 PMID: 14595441
20. The results demonstrate that KIF21A mutations are a rare cause of CFEOM3 (congenital fibrosis of the extraocular muscles) PMID: 15223798
21. Mutation in KIF21A is associated with congenital fibrosis of the extraocular muscles patients PMID: 15621876
22. Mutation in cpg island of KIF21A is associated with congenital fibrosis of the extraocular muscles patients PMID: 15621877
23. Orbital imaging in CFEOM1 due to various amino acid substitutions in the kinesin KIF21A demonstrates consistent abnormalities of motor and sensory innervation in the orbit. PMID: 15671279
24. CFEOM (congenital fibrosis of the extraocular muscles) is present in Chinese populations. Both CFEOM1 and CFEOM3 can be caused by the same mutation at the KIF21A gene. PMID: 15827546
25. This report introduces a new CFEOM1 (congenital fibrosis of the extraocular muscles) KIF21A mutation and is, to our knowledge, the first report of a genetic defect associated with Marcus Gunn jaw-winking. PMID: 16157808
26. Mutations of the KIF21A gene contribute to the development of CFEOM1 regardless of ethnicity. PMID: 16365788
27. mutation p.Arg954Trp of the KIF21A is the genetic basis of the congenital fibrosis of the extraocular muscles type 1 PMID: 16939002
28. All three new mutations alter amino acids in heptad repeats within the third coiled-coil region of the KIF21A stalk, highlighting the importance of alterations in this domain in the etiology of Congenital fibrosis of the extraocular muscles types 1 and 3. PMID: 17511870
29. No KIF21A nucleotide change was found in any patients with congenital superior oblique muscle palsy PMID: 18323871
30. The novel KIF21A mutation 84C>G demonstrated in a CFEOM1 family affects the kinesin motor domain, supporting that mutations may also occur outside the commonly involved coiled-coil domain. PMID: 18332320
31. The finding of R954W mutation in the historically isolated population of the Arabian Peninsula confirms that R954 is a "hotspot" for KIF21A mutation. PMID: 18363169
32. Overexpression of full-length KIF21A and BIG1 and their fragments in HEK293 cells followed by reciprocal IP revealed that the C-terminal tail of KIF21A, with seven WD-40 repeats, may interact with structure in the C-terminal region of BIG1. PMID: 19020088
33. The patients had marked restriction of movement bilaterally with nearly complete loss of vertical ocular motility, graded reduction of horizontal motility, ptosis, and compensatory chin elevation. PMID: 19551685
34. These results suggest that KIF21A regulates the distribution of Kank1 and that KIF21A mutations associated with congenital fibrosis of the extraocular muscles type 1 enhanced the accumulation of Kank1 in the membrane fraction. PMID: 19559006
35. Our 16-patient sample suggests that KIF21A and PHOX2A sequence variation does not have a role in common forms of congenital incomitant vertical strabismus. PMID: 19852579
36. Using shotgun mass spectrometry, we found this protein differentially expressed in the dorsolateral prefrontal cortex from patients with schizophrenia. PMID: 19165527

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HGNC: 19349

OMIM: 135700

KEGG: hsa:55605

STRING: 9606.ENSP00000354878

UniGene: Hs.374201