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 |