PHD finger protein 21A
Dernière mise à jour 7 avr. 2026
Respecte les directives éditoriales
- TéléchargerTélécharger
- Partager
- Language
- Discussion
- Version audio
- Ajouter aux sources préférées sur Google
The PHF21A gene provides instructions for making a protein that helps regulate gene activity. The PHF21A protein does this by interacting with proteins that modify histones, which are structural proteins that bind to DNA and package it into chromosomes. Particular regions of the PHF21A protein can recognise certain histone patterns and help regulate whether certain genes are turned on (active) or turned off (inactive).
Normal function
The PHF21A gene provides instructions for making a protein that helps regulate gene activity. The PHF21A protein does this by interacting with proteins that modify histones, which are structural proteins that bind to DNA and package it into chromosomes. Particular regions of the PHF21A protein can recognise certain histone patterns and help regulate whether certain genes are turned on (active) or turned off (inactive).
The PHF21A protein appears to be particularly important in regulating genes that are involved in the development of the brain and face.
Conditions referring to this gene or chromosome
Other names
BHC80
BM-006
KIAA1696
Related patient information and medicines
Patient information leaflet
Lentilles de contact
Contact lenses are optical devices that sit over of the clear front surface of your eye (the cornea). They are most commonly worn as an alternative to spectacles to correct problems with your vision. Contact lenses cannot get around the back ... If a lens slips away from the front of your eye as you try to put it in or take it out, and you can't.
Patient information leaflet
Polyarthrite rhumatoïde
There is no single test which ... However, RA can usually be confidently diagnosed by a doctor, based on the following combination of factors: Typical symptoms - as described above. A blood test. The common test is to check for a protein in the blood, called rheumatoid factor. This is present in about 2 in 3 people with RA. These may show the.
Patient information leaflet
Alimentation saine
It may also help to reduce your risk of developing some cancers and help you to maintain a healthy weight. This leaflet explains the principles of a healthy diet. It is general advice for most people. A 2019 review by the SACN (The Scientific Advisory Committee on Nutrition) determined that reducing your intake of saturated fats lowers your risk.
Patient information leaflet
Sclérodermie systémique
Personnes avec sclérodermie systémique should have regular monitoring of blood pressure, blood and urine tests, and lung function, and should report any unexplained symptoms promptly to a doctor. Systemic sclerosis cannot be cured but there are various treatments which can help. Newer treatments have improved the outlook for this condition. What is.
Patient information leaflet
Dystrophie musculaire de Duchenne
They are likely to need increasing help and treatments. What is Duchenne muscular dystrophy. Duchenne muscular dystrophy (DMD) is an inherited (genetic) condition which affects muscle strength and function. It causes progressive muscle weakness and is a serious condition which starts in early childhood. The muscle weakness is mainly in the.
Patient information leaflet
Test PSA
The PSA test (prostate specific antigen) is a blood test which assesses for the likelihood of prostate cancer. It is also used to monitor the treatment for prostate cancer. The PSA blood level can also be increased in other conditions. The PSA test (prostate specific antigen) is a blood test that measures the level of prostate specific antigen in.
Lectures complémentaires et références
- PHD finger protein 21A; MedlinePlus, National Library of Medicine.
- Kim HG, Kim HT, Leach NT, Lan F, Ullmann R, Silahtaroglu A, Kurth I, Nowka A, Seong IS, Shen Y, Talkowski ME, Ruderfer D, Lee JH, Glotzbach C, Ha K, Kjaergaard S, Levin AV, Romeike BF, Kleefstra T, Bartsch O, Elsea SH, Jabs EW, MacDonald ME, Harris DJ, Quade BJ, Ropers HH, Shaffer LG, Kutsche K, Layman LC, Tommerup N, Kalscheuer VM, Shi Y, Morton CC, Kim CH, Gusella JF. Translocations disrupting PHF21A in the Potocki-Shaffer-syndrome region are associated with intellectual disability and craniofacial anomalies. Am J Hum Genet. 2012 Jul 13;91(1):56-72. doi: 10.1016/j.ajhg.2012.05.005. Epub 2012 Jul 5.
- Labonne JD, Vogt J, Reali L, Kong IK, Layman LC, Kim HG. A microdeletion encompassing PHF21A in an individual with global developmental delay and craniofacial anomalies. Am J Med Genet A. 2015 Dec;167A(12):3011-8. doi: 10.1002/ajmg.a.37344. Epub 2015 Sep 3.
- Lan F, Collins RE, De Cegli R, Alpatov R, Horton JR, Shi X, Gozani O, Cheng X, Shi Y. Recognition of unmethylated histone H3 lysine 4 links BHC80 to LSD1-mediated gene repression. Nature. 2007 Aug 9;448(7154):718-22. doi: 10.1038/nature06034.
- Montgomery ND, Turcott CM, Tepperberg JH, McDonald MT, Aylsworth AS. A 137-kb deletion within the Potocki-Shaffer syndrome interval on chromosome 11p11.2 associated with developmental delay and hypotonia. Am J Med Genet A. 2013 Jan;161A(1):198-202. doi: 10.1002/ajmg.a.35671. Epub 2012 Dec 13.
- Poole RL, Bijlsma EK, Houge G, Jones G, Mikstiene V, Preiksaitiene E, Thompson L, Tatton-Brown K. The PHF21A neurodevelopmental disorder: an evaluation of clinical data from 13 patients. Clin Dysmorphol. 2023 Apr 1;32(2):49-54. doi: 10.1097/MCD.0000000000000455. Epub 2023 Feb 21.
Participez à la conversation
Partagez vos pensées ou expériences avec les autres dans notre communautés de patients.
Demandez, partagez, connectez-vous.
Parcourez les discussions, posez des questions et partagez vos expériences sur des centaines de sujets de santé.
Inscrivez-vous à la newsletter Patient
Votre dose hebdomadaire de conseils de santé clairs et fiables - rédigés pour vous aider à vous sentir informé, confiant et maître de la situation.
En vous abonnant, vous acceptez notre Politique de confidentialité. Vous pouvez vous désabonner à tout moment. Nous ne vendons jamais vos données.