Details for Gene HTT

GENE NAME HTT
CHROMOSOME 4
ENSEMBL ID ENSG00000197386
ENTREZ ID 3064
UNIPROT ACCESSION NUMBER P42858
GO MOLECULAR FUNCTION protein binding; identical protein binding
ESSENTIAL IN MOUSE Essential
PATHWAYS R-HSA-74160; hsa05022; hsa05016; R-HSA-73857; R-HSA-8986944; R-HSA-9022692; R-HSA-212436
1 combination linked to HTT OLI332
1 variant linked to HTT HTT:c.8215G>A, p.Ala2739Thr
1 disease linked to HTT Amyotrophic lateral sclerosis

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