kinesin family member 7
Ultimo aggiornamento 18 Ago 2020
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L KIF7 gene provides instructions for making a protein that is associated with structures called primary cilia. These microscopic, finger-like projections stick out from the surface of cells and are involved in signaling pathways that transmit information into cells. Studies suggest that the KIF7 protein helps to maintain the proper length and stability of cilia.
Normal function
L KIF7 gene provides instructions for making a protein that is associated with structures called primary cilia. These microscopic, finger-like projections stick out from the surface of cells and are involved in signaling pathways that transmit information into cells. Studies suggest that the KIF7 protein helps to maintain the proper length and stability of cilia.
Through its association with primary cilia, the KIF7 protein helps regulate a signaling pathway known as Sonic Hedgehog. This pathway is essential for early development. It plays roles in cell growth, cell specialization, and the normal shaping (patterning) of many parts of the body, including the brain and limbs.
Conditions referring to this gene or chromosome
Altri nomi
ACLS
AGBK
EQYK340
HLS2
JBTS12
kinesin-like protein KIF7
UNQ340
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Ulteriori letture e riferimenti
- kinesin family member 7; MedlinePlus, National Library of Medicine.
- Dafinger C, Liebau MC, Elsayed SM, Hellenbroich Y, Boltshauser E, Korenke GC, Fabretti F, Janecke AR, Ebermann I, Nurnberg G, Nurnberg P, Zentgraf H, Koerber F, Addicks K, Elsobky E, Benzing T, Schermer B, Bolz HJ. Mutations in KIF7 link Joubert syndrome with Sonic Hedgehog signaling and microtubule dynamics. J Clin Invest. 2011 Jul;121(7):2662-7. doi: 10.1172/JCI43639.
- He M, Subramanian R, Bangs F, Omelchenko T, Liem KF Jr, Kapoor TM, Anderson KV. The kinesin-4 protein Kif7 regulates mammalian Hedgehog signalling by organizing the cilium tip compartment. Nat Cell Biol. 2014 Jul;16(7):663-72. doi: 10.1038/ncb2988. Epub 2014 Jun 22.
- Putoux A, Nampoothiri S, Laurent N, Cormier-Daire V, Beales PL, Schinzel A, Bartholdi D, Alby C, Thomas S, Elkhartoufi N, Ichkou A, Litzler J, Munnich A, Encha-Razavi F, Kannan R, Faivre L, Boddaert N, Rauch A, Vekemans M, Attie-Bitach T. Novel KIF7 mutations extend the phenotypic spectrum of acrocallosal syndrome. J Med Genet. 2012 Nov;49(11):713-20. doi: 10.1136/jmedgenet-2012-101016.
- Putoux A, Thomas S, Coene KL, Davis EE, Alanay Y, Ogur G, Uz E, Buzas D, Gomes C, Patrier S, Bennett CL, Elkhartoufi N, Frison MH, Rigonnot L, Joye N, Pruvost S, Utine GE, Boduroglu K, Nitschke P, Fertitta L, Thauvin-Robinet C, Munnich A, Cormier-Daire V, Hennekam R, Colin E, Akarsu NA, Bole-Feysot C, Cagnard N, Schmitt A, Goudin N, Lyonnet S, Encha-Razavi F, Siffroi JP, Winey M, Katsanis N, Gonzales M, Vekemans M, Beales PL, Attie-Bitach T. KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes. Nat Genet. 2011 Jun;43(6):601-6. doi: 10.1038/ng.826. Epub 2011 May 8.
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