kelch like family member 3
अंतिम अद्यतन 12 अप्रैल 2023
मरीज की संपादकीय दिशानिर्देशों
- डाउनलोडडाउनलोड
- साझा करें
- Language
- चर्चा
- ऑडियो संस्करण
- Google पर पसंदीदा स्रोतों में जोड़ें
यह KLHL3 gene provides instructions for making a protein that plays a role in the cell machinery that breaks down (degrades) unwanted proteins, called the ubiquitin-proteasome system.
Normal function
यह KLHL3 gene provides instructions for making a protein that plays a role in the cell machinery that breaks down (degrades) unwanted proteins, called the ubiquitin-proteasome system.
The KLHL3 protein is one piece of a complex known as an E3 ubiquitin ligase. E3 ubiquitin ligases function as part of the ubiquitin-proteasome system by tagging damaged and excess proteins with molecules called ubiquitin. Ubiquitin serves as a signal to specialized cell structures known as proteasomes, which attach (bind) to the tagged proteins and degrade them. The ubiquitin-proteasome system acts as the cell's quality control system by disposing of damaged, misshapen, and excess proteins. This system also regulates the level of proteins involved in several critical cell activities such as the timing of cell division and growth.
The KLHL3 protein identifies the target of the E3 ubiquitin ligase complex and attaches the complex to it. Complexes containing the KLHL3 protein tag proteins called WNK1 and WNK4 with ubiquitin. The WNK1 and WNK4 proteins are involved in controlling blood pressure in the body. By regulating the amount of these proteins available, KLHL3 plays a role in blood pressure control.
Conditions referring to this gene or chromosome
Other names
kelch-like family member 3
kelch-like protein 3 isoform 1
kelch-like protein 3 isoform 2
kelch-like protein 3 isoform 3
KIAA1129
PHA2D
Related patient information and medicines
Patient information leaflet
केलॉइड
A keloid (also called a keloid scar) is an overgrowth of a scar, after the skin has been damaged. It is an abnormal type of wound healing. It is particularly common in people with dark skin or who have family members who have developed keloid scars. What is a keloid scar. Most people who develop a keloid are between 10-30 years old. Half of people.
Patient information leaflet
Alcohol use disorder
Many people drink alcohol. For some, alcohol is something that they enjoy in moderation. Other people drink alcoho... Some people can find it very difficult to control, or stop, their drinking. What is alcohol use disorder. Alcohol use disorder means drinking alcohol in a way that causes harm. If you or a family member has alcohol use disorder.
Patient information leaflet
अल्बिनिज़्म
क्या है albinism. अल्बिनिज़्म is an inherited condition that leads to someone having very light skin, hair, and eyes. It happens because they have less melanin than usual in their body. अधिकांश अल्बिनिज़्म वाले बच्चे ऐसे माता-पिता से पैदा होते हैं जिनके बाल और आंखों का रंग उनके जातीय पृष्ठभूमि के लिए सामान्य होता है।. For a recessive condition (like most types of.
Patient information leaflet
रेटिनोब्लास्टोमा
Most commonly, it affects children aged under 2, including newborn babies. See separate leaflet called Cancer - A General Overview for more general information about कैंसर कैसे common है retinoblastomaEven though retinoblastoma is a genetic disease, most of these cases occur in families who have never had a family member with retinoblastoma. See.
Patient information leaflet
बुखार के दौरे
Full recovery with no permanent damage is usual. The main treatment is aimed at the illnes... Febrile seizures are more common in children who have had a previous febrile seizure (3-5 out of 10 children who have had one febrile seizure will go on to have another one). They are also more common in children with a family history of febrile seizures.
Patient information leaflet
ड्यूचेन मस्कुलर डिस्ट्रॉफी
यह starts में childhood and may be noticed when a child has difficulty standing up, climbing or running. It is a genetic condition and can be inherited. What is Duchenne muscular dystrophy. Duchenne muscular dystrophy (DMD) है an inherited (genetic) condition which affects muscle strength and function. It causes progressive muscle weakness and is a.
अधिक पठन और संदर्भ
- kelch like family member 3; MedlinePlus, National Library of Medicine.
- Boyden LM, Choi M, Choate KA, Nelson-Williams CJ, Farhi A, Toka HR, Tikhonova IR, Bjornson R, Mane SM, Colussi G, Lebel M, Gordon RD, Semmekrot BA, Poujol A, Valimaki MJ, De Ferrari ME, Sanjad SA, Gutkin M, Karet FE, Tucci JR, Stockigt JR, Keppler-Noreuil KM, Porter CC, Anand SK, Whiteford ML, Davis ID, Dewar SB, Bettinelli A, Fadrowski JJ, Belsha CW, Hunley TE, Nelson RD, Trachtman H, Cole TR, Pinsk M, Bockenhauer D, Shenoy M, Vaidyanathan P, Foreman JW, Rasoulpour M, Thameem F, Al-Shahrouri HZ, Radhakrishnan J, Gharavi AG, Goilav B, Lifton RP. Mutations in kelch-like 3 and cullin 3 cause hypertension and electrolyte abnormalities. Nature. 2012 Jan 22;482(7383):98-102. doi: 10.1038/nature10814.
- Louis-Dit-Picard H, Barc J, Trujillano D, Miserey-Lenkei S, Bouatia-Naji N, Pylypenko O, Beaurain G, Bonnefond A, Sand O, Simian C, Vidal-Petiot E, Soukaseum C, Mandet C, Broux F, Chabre O, Delahousse M, Esnault V, Fiquet B, Houillier P, Bagnis CI, Koenig J, Konrad M, Landais P, Mourani C, Niaudet P, Probst V, Thauvin C, Unwin RJ, Soroka SD, Ehret G, Ossowski S, Caulfield M; International Consortium for Blood Pressure (ICBP); Bruneval P, Estivill X, Froguel P, Hadchouel J, Schott JJ, Jeunemaitre X. KLHL3 mutations cause familial hyperkalemic hypertension by impairing ion transport in the distal nephron. Nat Genet. 2012 Mar 11;44(4):456-60, S1-3. doi: 10.1038/ng.2218.
- Mori Y, Wakabayashi M, Mori T, Araki Y, Sohara E, Rai T, Sasaki S, Uchida S. Decrease of WNK4 ubiquitination by disease-causing mutations of KLHL3 through different molecular mechanisms. Biochem Biophys Res Commun. 2013 Sep 13;439(1):30-4. doi: 10.1016/j.bbrc.2013.08.035. Epub 2013 Aug 17.
- Ohta A, Schumacher FR, Mehellou Y, Johnson C, Knebel A, Macartney TJ, Wood NT, Alessi DR, Kurz T. The CUL3-KLHL3 E3 ligase complex mutated in Gordon's hypertension syndrome interacts with and ubiquitylates WNK isoforms: disease-causing mutations in KLHL3 and WNK4 disrupt interaction. Biochem J. 2013 Apr 1;451(1):111-22. doi: 10.1042/BJ20121903.
- Shibata S, Zhang J, Puthumana J, Stone KL, Lifton RP. Kelch-like 3 and Cullin 3 regulate electrolyte homeostasis via ubiquitination and degradation of WNK4. Proc Natl Acad Sci U S A. 2013 May 7;110(19):7838-43. doi: 10.1073/pnas.1304592110. Epub 2013 Apr 1.
बातचीत में शामिल हों
हमारे में दूसरों के साथ अपने विचार या अनुभव साझा करें रोगी समुदायों.
पूछें, साझा करें, जुड़ें।.
चर्चाओं को ब्राउज़ करें, प्रश्न पूछें, और सैकड़ों स्वास्थ्य विषयों पर अनुभव साझा करें।.
पेशेंट न्यूज़लेटर के लिए साइन अप करें
आपकी साप्ताहिक खुराक स्पष्ट, विश्वसनीय स्वास्थ्य सलाह की - जो आपको सूचित, आत्मविश्वासी और नियंत्रण में महसूस करने में मदद करने के लिए लिखी गई है।.
सदस्यता लेने पर आप हमारी स्वीकार करते हैं गोपनीयता नीति. आप किसी भी समय सदस्यता समाप्त कर सकते हैं। हम कभी भी आपका डेटा नहीं बेचते।.