kinesin family member 1B
עודכן לאחרונה 18 Aug 2020
עומד בהנחיות העריכה של Patient
- הורדהורד
- שתף
- Language
- דיון
- גרסת שמע
- הוסף למקורות מועדפים בגוגל
ה KIF1B gene provides instructions for making a protein called kinesin family member 1B, part of the kinesin family of proteins. These proteins are essential for the transport of materials within cells. Kinesin proteins function like freight trains that transport cargo, and their structure is suited for this cargo-carrying function. One part of the protein, called the motor domain, provides the power to move the protein and its cargo along a track-like system made from structures called microtubules. Another part of the kinesin protein, which varies among members of this protein family, binds to specific materials for transport.
Normal function
ה KIF1B gene provides instructions for making a protein called kinesin family member 1B, part of the kinesin family of proteins. These proteins are essential for the transport of materials within cells. Kinesin proteins function like freight trains that transport cargo, and their structure is suited for this cargo-carrying function. One part of the protein, called the motor domain, provides the power to move the protein and its cargo along a track-like system made from structures called microtubules. Another part of the kinesin protein, which varies among members of this protein family, binds to specific materials for transport.
Research suggests that the kinesin family member 1B protein specializes in carrying two types of cargo. In nerve cells (neurons), this protein transports small, sac-like structures called synaptic vesicles, which contain materials necessary for the transmission of nerve impulses. In other cell types, the kinesin family member 1B protein carries energy-producing structures called mitochondria.
In addition to its transport functions, the kinesin family member 1B protein appears to be involved in programmed cell death (apoptosis). Apoptosis is a common process throughout life that helps the body get rid of cells it does not need.
Conditions referring to this gene or chromosome
Other names
CMT2
CMT2A
HMSNII
KIAA0591
KIAA1488
KIF1B_HUMAN
KLP
Related patient information and medicines
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). Polycystic kidney disease is a genetic condition. You get one faulty gene from each... Non-hereditary polycystic kidney disease In about.
Patient information leaflet
ניוון שרירים
Muscular dystrophy is an inherited (genetic) disorder causing muscle weakness. Muscular dystrophy (MD) is the name given to a group of disorders which cause progressive muscle weakness (meaning it gets worse over time). Also, if a child has delayed motor mi... MD may be diagnosed using one or more of the following tests: A blood test for creatine.
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 ... It is not caused by your genetic make-up. Some neurological conditions can cause.
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. What causes Huntington's disease. מחלת הנטינגטון מטופל? caused by a defective gene that you inherit from your parents. מחלת הנטינגטון is an autosomal dominant.
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. However, there are many types of albinism and people can... How common is albinism. Approximately 1 in 17,000 people in Europe and the USA have one of the.
Patient information leaflet
סרטן השד אצל גברים
We think of breast cancer as a disease of women because it is usually women who are affected. However, breast cancer can develop occasionally in men too. Whatever your gender, it is very important to see a doctor as soon a... What is breast cancer. Cancer is a condition where cells multiply abnormally, affecting and distorting nearby body.
קריאה נוספת והפניות
- kinesin family member 1B; MedlinePlus, National Library of Medicine.
- Berger P, Young P, Suter U. Molecular cell biology of Charcot-Marie-Tooth disease. Neurogenetics. 2002 Mar;4(1):1-15. doi: 10.1007/s10048-002-0130-z.
- Galan SR, Kann PH. Genetics and molecular pathogenesis of pheochromocytoma and paraganglioma. Clin Endocrinol (Oxf). 2013 Feb;78(2):165-75. doi: 10.1111/cen.12071.
- Henrich KO, Schwab M, Westermann F. 1p36 tumor suppression--a matter of dosage? Cancer Res. 2012 Dec 1;72(23):6079-88. doi: 10.1158/0008-5472.CAN-12-2230. Epub 2012 Nov 20.
- Munirajan AK, Ando K, Mukai A, Takahashi M, Suenaga Y, Ohira M, Koda T, Hirota T, Ozaki T, Nakagawara A. KIF1Bbeta functions as a haploinsufficient tumor suppressor gene mapped to chromosome 1p36.2 by inducing apoptotic cell death. J Biol Chem. 2008 Sep 5;283(36):24426-34. doi: 10.1074/jbc.M802316200. Epub 2008 Jul 9.
- Niemann A, Berger P, Suter U. Pathomechanisms of mutant proteins in Charcot-Marie-Tooth disease. Neuromolecular Med. 2006;8(1-2):217-42. doi: 10.1385/nmm:8:1-2:217.
- Qin Y, Buddavarapu K, Dahia PL. Pheochromocytomas: from genetic diversity to new paradigms. Horm Metab Res. 2009 Sep;41(9):664-71. doi: 10.1055/s-0029-1215590. Epub 2009 Apr 23.
- Schlisio S, Kenchappa RS, Vredeveld LC, George RE, Stewart R, Greulich H, Shahriari K, Nguyen NV, Pigny P, Dahia PL, Pomeroy SL, Maris JM, Look AT, Meyerson M, Peeper DS, Carter BD, Kaelin WG Jr. The kinesin KIF1Bbeta acts downstream from EglN3 to induce apoptosis and is a potential 1p36 tumor suppressor. Genes Dev. 2008 Apr 1;22(7):884-93. doi: 10.1101/gad.1648608. Epub 2008 Mar 11.
- Yeh IT, Lenci RE, Qin Y, Buddavarapu K, Ligon AH, Leteurtre E, Do Cao C, Cardot-Bauters C, Pigny P, Dahia PL. A germline mutation of the KIF1B beta gene on 1p36 in a family with neural and nonneural tumors. Hum Genet. 2008 Oct;124(3):279-85. doi: 10.1007/s00439-008-0553-1. Epub 2008 Aug 26.
- Zhao C, Takita J, Tanaka Y, Setou M, Nakagawa T, Takeda S, Yang HW, Terada S, Nakata T, Takei Y, Saito M, Tsuji S, Hayashi Y, Hirokawa N. Charcot-Marie-Tooth disease type 2A caused by mutation in a microtubule motor KIF1Bbeta. Cell. 2001 Jun 1;105(5):587-97. doi: 10.1016/s0092-8674(01)00363-4.
הצטרפו לשיחה
שתפו את מחשבותיכם או חוויותיכם עם אחרים ב קהילות המטופלים שלנו.
שאלו, שתפו, התחברו.
עיין בדיונים, שאל שאלות ושתף חוויות במאות נושאים בריאותיים.
הירשמו לניוזלטר של פיישנט
המנה השבועית שלך של עצות בריאות ברורות ואמינות - נכתבה כדי לעזור לך להרגיש מעודכן, בטוח ובשליטה.
על ידי הרשמה אתה מקבל את שלנו מדיניות הפרטיות שלנו. באפשרותך לבטל את המנוי בכל עת. לעולם לא נמכור את הנתונים שלך.