PHD finger protein 21A
Last updated 7 Apr 2026
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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
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Further reading and references
- 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.
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