GENE NAME | TPP1 |
CHROMOSOME | 11 |
ENSEMBL ID | ENSG00000166340 |
ENTREZ ID | 1200 |
UNIPROT ACCESSION NUMBER | O14773 |
GO MOLECULAR FUNCTION | protein binding; tripeptidyl-peptidase activity; serine-type endopeptidase activity; sulfatide binding; peptidase activity; hydrolase activity; serine-type peptidase activity; lysophosphatidic acid binding; endopeptidase activity; metal ion binding |
ESSENTIAL IN MOUSE | Essential |
PATHWAYS | R-HSA-381119; hsa04142; R-HSA-381070; R-HSA-392499; R-HSA-381038 |
2 combinations linked to TPP1 | OLI462; OLI329 |
2 variants linked to TPP1 | TPP1:c.14C>A, p.Ala5Asp; TPP1:c.622C>T, p.Arg208Ter |
2 diseases linked to TPP1 | Mitochondrial membrane protein-associated neurodegeneration; Amyotrophic lateral sclerosis |