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Immunogen sequence: EPRTRAEAR PWVDEDLKDS SDLHQAEEDA DEWQESEENV EHIPFSHNHY PEKEMVKRSQ EFYELLNKRR SVRFISNEQV PMEVIDNVIR TAGTAPSGAH TEPWTFVVVK DPDVKHKIRK IIEEEEEINY MKRMGHRWVT DLKKLRTNWI KEYLDTAPIL ILIFKQVHGF AANGKKKVHY YNEISVSIAC GILLAALQNA GLVTVTTTPL NCGPRLRVLL GRPAHEKLPM LLPVGYPSKE ATVPDLKRKP LDQIMVTV (33-289 aa encoded by BC056253 )
This gene encodes an enzyme that catalyzes the oxidative NADPH-dependent deiodination of mono- and diiodotyrosine, which are the halogenated byproducts of thyroid hormone production. The N-terminus of the protein functions as a membrane anchor. Mutations in this gene cause congenital hypothyroidism due to dyshormonogenesis type 4, which is also referred to as deiodinase deficiency, or iodotyrosine dehalogenase deficiency, or thyroid hormonogenesis type 4. Alternative splicing results in multiple transcript variants.
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Protein Aliases: dJ422F24.1; Iodotyrosine dehalogenase 1; Iodotyrosine deiodinase 1; IYD-1
Gene Aliases: C6orf71; DEHAL1; IYD; IYD-1; TDH4
UniProt ID: (Human) Q6PHW0
Entrez Gene ID: (Human) 389434
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