IYD |
- 30
Haplo
Score - 0
Triplo
Score
Gene Facts External Data Attribution
- HGNC Symbol
- IYD (HGNC:21071) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
- HGNC Name
- iodotyrosine deiodinase
- Gene type
- protein-coding gene
- Locus type
- gene with protein product
- Previous symbols
- C6orf71
- Alias symbols
- dJ422F24.1, DEHAL1
- %HI
- 67.58(Read more about the DECIPHER Haploinsufficiency Index)
- pLI
- 0(Read more about gnomAD pLI score)
- LOEUF
- 1.17(Read more about gnomAD LOEUF score)
- Cytoband
- 6q25.1
- Genomic Coordinates
-
GRCh37/hg19: chr6:150690148-150727105 NCBI Ensembl UCSC GRCh38/hg38: chr6:150369012-150405969 NCBI Ensembl UCSC - MANE Select Transcript
- NM_203395.3 ENST00000344419.8 (Read more about MANE Select)
- Function
- Catalyzes the dehalogenation of halotyrosines such as 3- bromo-L-tyrosine, 3-chloro-L-tyrosine, 3-iodo-L-tyrosine and 3,5- diiodo-L-tyrosine (PubMed:15289438, PubMed:18434651, PubMed:25395621, PubMed:28157283). During thyroid hormone biosynthesis, facilitates iodide salvage by catalysing the oxidative NADPH-dependent deiodination of the halogenated by-products of thyroid hormone production, monoiodotyrosine (L-MIT) and diiodotyrosine (L-DIT) (PubMed:15289438, PubMed:18434651). The scavanged iodi... (Source: Uniprot)
Dosage Sensitivity Summary (Gene)
Dosage ID:
ISCA-31295
ClinGen Curation ID:
CCID:007340
Curation Status:
Complete
Issue Type:
Dosage Curation -
Gene
Haploinsufficiency:
Gene Associated with Autosomal Recessive Phenotype
(30)
Triplosensitivity:
No Evidence for Triplosensitivity
(0)
Last Evaluated:
08/22/2016
Haploinsufficiency (HI) Score Details
HI Score:
30
HI Evidence Strength:
Gene Associated with Autosomal Recessive Phenotype
(Disclaimer)
HI Disease:
- thyroid dyshormonogenesis 4 Monarch
Triplosensitivity (TS) Score Details
TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)
Genomic View
Select assembly:
(NC_000006.11)
(NC_000006.12)