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HAAO |
Gene Facts External Data Attribution
- HGNC Symbol
- HAAO (HGNC:4796) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
- HGNC Name
- 3-hydroxyanthranilate 3,4-dioxygenase
- Gene type
- protein-coding gene
- Locus type
- gene with protein product
- Previous symbols
- No previous names found
- Alias symbols
- 3-HAO, HAO
- %HI
- 43.87(Read more about the DECIPHER Haploinsufficiency Index)
- pLI
- 0(Read more about gnomAD pLI score)
- LOEUF
- 1.55(Read more about gnomAD LOEUF score)
- Cytoband
- 2p21
- Genomic Coordinates
-
GRCh37/hg19: chr2:42994229-43019723 NCBI Ensembl UCSC GRCh38/hg38: chr2:42767089-42792583 NCBI Ensembl UCSC - MANE Select Transcript
- NM_012205.3 ENST00000294973.11 (Read more about MANE Select)
- Function
- Catalyzes the oxidative ring opening of 3-hydroxyanthranilate to 2-amino-3-carboxymuconate semialdehyde, which spontaneously cyclizes to quinolinate. {ECO:0000255|HAMAP-Rule:MF_03019, ECO:0000269|PubMed:28792876, ECO:0000269|PubMed:7514594}. (Source: Uniprot)
Dosage Sensitivity Summary (Gene)
Dosage ID:
ISCA-30325
Curation Status:
Awaiting Review
Issue Type:
Dosage Curation -
Gene
Haploinsufficiency:
Awaiting Review
Triplosensitivity:
Awaiting Review
Last Evaluated:
Awaiting Review
Haploinsufficiency (HI) Score Details
Review not yet complete.
Triplosensitivity (TS) Score Details
Review not yet complete.
Genomic View
Select assembly:
(NC_000002.11)
(NC_000002.12)
