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HTT |
Gene Facts External Data Attribution
- HGNC Symbol
- HTT (HGNC:4851) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
- HGNC Name
- huntingtin
- Gene type
- protein-coding gene
- Locus type
- gene with protein product
- Previous symbols
- HD
- Alias symbols
- IT15
- %HI
- 7.59(Read more about the DECIPHER Haploinsufficiency Index)
- pLI
- 1(Read more about gnomAD pLI score)
- LOEUF
- 0.35(Read more about gnomAD LOEUF score)
- Cytoband
- 4p16.3
- Genomic Coordinates
-
GRCh37/hg19: chr4:3076408-3245687 NCBI Ensembl UCSC GRCh38/hg38: chr4:3074681-3243960 NCBI Ensembl UCSC - MANE Select Transcript
- NM_001388492.1 ENST00000355072.11 (Read more about MANE Select)
- Function
- [Huntingtin]: May play a role in microtubule-mediated transport or vesicle function. [Huntingtin, myristoylated N-terminal fragment]: Promotes the formation of autophagic vesicles. {ECO:0000269|PubMed:24459296}. (Source: Uniprot)
Dosage Sensitivity Summary (Gene)
Dosage ID:
ISCA-31043
Curation Status:
Under Primary Review
Issue Type:
Dosage Curation -
Gene
Haploinsufficiency:
Under Primary Review
Triplosensitivity:
Under Primary Review
Last Evaluated:
Under Primary Review
Haploinsufficiency (HI) Score Details
Review not yet complete.
Triplosensitivity (TS) Score Details
Review not yet complete.
Genomic View
Select assembly:
(NC_000004.11)
(NC_000004.12)
