kinesin family member 7
עודכן לאחרונה 18 Aug 2020
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ה 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
ה 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
Other names
ACLS
AGBK
EQYK340
HLS2
JBTS12
kinesin-like protein KIF7
UNQ340
Related patient information and medicines
Patient information leaflet
פצעי קור
About 1 in 5 people ב the UK have recurring cold sores. The virus infects through the moist inner skin that lines the mouth. It is commonly passed on by skin contact such as kisses from a family member who has a cold sore. The first infection does not always cause symptoms. Testing might be done in people who have a poor immune system.
Patient information leaflet
מחלת כליות פוליציסטית
Polycystic kidney disease (PKD) causes many fluid-filled sacs (cysts) ל develop in the kidneys. The most common type of PKD is an inherited condition called autosomal dominant polycystic kidney disease (ADPKD). With ADPKD, problems commonly do not develop until the age of 30-50, with some people never developing any problems. The two common.
Patient information leaflet
מחלת הנטינגטון
Between 5-10 in 100 people with Huntington's disease develop symptoms before they are 20. This is known as juvenile Huntington's disease. It can cause more severe symptoms. מחלת הנטינגטון מטופל? caused by a defective gene that you inherit from your parents. מחלת הנטינגטון מטופל? an autosomal dominant condition, meaning you can inherit the.
Patient information leaflet
ניוון שרירים
ניוון שרירים הוא inherited (genetic) disorder causing muscle weakness. There are different types of muscular dystrophy, which vary as to how severe they are, ranging from very mild to severe. The different types also vary as to what age they begin. What is muscular dystrophy. Muscular dystrophy (MD) is the name given to a group of.
Patient information leaflet
דיסטוניה
A dystonia is a lasting or frequently recurring and unwanted (involuntary) muscle contraction. It can affect one or more muscles in the body. Secondary dystonia Secondary means the dystonia has been caused by another condition or by something which has happened to you. It is not caused by your genetic make-up. Some neurological conditions can.
Patient information leaflet
לבקנות
לבקנות is a rare inherited (genetic) condition which reduces the amount of of melanin pigment in the skin, hair and/or eyes. People with albinism are often pale, with light-coloured irises. Types of albinism Albinism is divided into OCA (which is more common and has many form... Oculocutaneous albinism (OCA) Seven forms of OCA are now recognised.
קריאה נוספת והפניות
- 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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