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MGP007094

Record overview

MGPD IDMGP007094
Gene ID389434
SpeciesHomo sapiens (Human)
Gene Nameiodotyrosine deiodinase
Gene Symbol IYD
SynonymsTDH4; DEHAL1; C6orf71; dJ422F24.1;
Alternate namesiodotyrosine dehalogenase 1; IYD-1;
Chromosome6
Map Location6q25.1
EC Number1.22.1.1
SummaryThis 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. [provided by RefSeq, Sep 2009]
OrthologsView orthologs and multiple alignments for IYD

Proteins

iodotyrosine dehalogenase 1 isoform 1
Refseq ID:NP_001158166
Protein GI:257743486
UniProt ID:Q6PHW0
mRNA ID:NM_001164694
Length:293
RefSeq Status:
MYFLTPILVAILCILVVWIFKNADRSMEKKKGEPRTRAEARPWVDEDLKDSSDLHQAEEDADEWQESEENVEHIPFSHNHYPEKEMVKRSQEFYELLNKR
RSVRFISNEQVPMEVIDNVIRTAGTAPSGAHTEPWTFVVVKDPDVKHKIRKIIEEEEEINYMKRMGHRWVTDLKKLRTNWIKEYLDTAPILILIFKQVHG
FAANGKKKVHYYNEISVSIACGILLAALQVNNGITMRHQTARHRHLIEGPGRSSEACSKLSSQGCPECRSGDCHYHSSQLWPSTEGAPGPPRT
 
iodotyrosine dehalogenase 1 isoform 2
Refseq ID:NP_981932
Protein GI:42794271
UniProt ID:Q6PHW0
mRNA ID:NM_203395
Length:289
RefSeq Status:
MYFLTPILVAILCILVVWIFKNADRSMEKKKGEPRTRAEARPWVDEDLKDSSDLHQAEEDADEWQESEENVEHIPFSHNHYPEKEMVKRSQEFYELLNKR
RSVRFISNEQVPMEVIDNVIRTAGTAPSGAHTEPWTFVVVKDPDVKHKIRKIIEEEEEINYMKRMGHRWVTDLKKLRTNWIKEYLDTAPILILIFKQVHG
FAANGKKKVHYYNEISVSIACGILLAALQNAGLVTVTTTPLNCGPRLRVLLGRPAHEKLLMLLPVGYPSKEATVPDLKRKPLDQIMVTV
 
iodotyrosine dehalogenase 1 isoform 3
Refseq ID:NP_001158167
Protein GI:257743489
UniProt ID:Q6PHW0
mRNA ID:NM_001164695
Length:247
RefSeq Status:
MYFLTPILVAILCILVVWIFKNADRSMEKKKGEPRTRAEARPWVDEDLKDSSDLHQAEEDADEWQESEENVEHIPFSHNHYPEKEMVKRSQEFYELLNKR
RSVRFISNEQVPMEVIDNVIRTAGTAPSGAHTEPWTFVVVKDPDVKHKIRKIIEEEEEINYMKRMGHRWVTDLKKLRTNWIKEYLDTAPILILIFKQVHG
FAANGKKKVHYYNEISVSIACGILLAALQVFGKIILKELALISFLNL
 
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