Details for Gene TPP1

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 OLI329; OLI462
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

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