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Protein-coding gene in the species Homo sapiens
IRX5 Identifiers Gene ontology
Molecular function Cellular component Biological process Sources:Amigo / QuickGO
Wikidata
Iroquois-class homeodomain protein IRX-5 , also known as Iroquois homeobox protein 5 , is a protein that in humans is encoded by the IRX5 gene .[3] [4]
Function
IRX5 is a member of the Iroquois homeobox gene family. Members of this family appear to play multiple roles during pattern formation of vertebrate embryos.[3] First described in a 2012 study by Reversade and colleagues, the loss of IRX5 in humans causes Hamamy Syndrome, a recessive developmental disorder mainly affecting the heart, long bones, and craniofacial structures. [5]
References
Further reading
Lewis MT, Ross S, Strickland PA, Snyder CJ, Daniel CW (June 1999). "Regulated expression patterns of IRX-2, an Iroquois-class homeobox gene, in the human breast" . Cell and Tissue Research . 296 (3): 549–54. .
Bruneau BG (March 2006). "[Irx5: a transcription factor that regulates the cardiac repolarization gradient]" . Médecine/Sciences . 22 (3): 231–2. .
Myrthue A, Rademacher BL, Pittsenbarger J, Kutyba-Brooks B, Gantner M, Qian DZ, Beer TM (June 2008). "The iroquois homeobox gene 5 is regulated by 1,25-dihydroxyvitamin D3 in human prostate cancer and regulates apoptosis and the cell cycle in LNCaP prostate cancer cells" . Clinical Cancer Research . 14 (11): 3562–70. .
Kanno S, Kuzuoka H, Sasao S, Hong Z, Lan L, Nakajima S, Yasui A (April 2007). "A novel human AP endonuclease with conserved zinc-finger-like motifs involved in DNA strand break responses" . The EMBO Journal . 26 (8): 2094–103. .
External links
This article incorporates text from the United States National Library of Medicine , which is in the public domain .
(1) Basic domains
(1.1) Basic leucine zipper (bZIP )(1.2) Basic helix-loop-helix (bHLH
)
Group A Group B Group C bHLH-PAS Group D Group E Group F bHLH-COE
(1.3) bHLH-ZIP (1.4) NF-1 (1.5) RF-X (1.6) Basic helix-span-helix (bHSH)
(2) Zinc finger DNA-binding domains
(2.1) Nuclear receptor (Cys4 )
subfamily 1 subfamily 2 subfamily 3 subfamily 4 subfamily 5 subfamily 6 subfamily 0
(2.2) Other Cys4 (2.3) Cys2 His2 (2.4) Cys6 (2.5) Alternating composition (2.6) WRKY
(4) β-Scaffold factors with minor groove contacts
(0) Other transcription factors