Details for Gene C9orf72

GENE NAME C9orf72
CHROMOSOME 9
ENSEMBL ID None
ENTREZ ID ENSG00000147894
UNIPROT ACCESSION NUMBER Q96LT7
GO MOLECULAR FUNCTION guanyl-nucleotide exchange factor activity; small GTPase binding; protein binding
ESSENTIAL IN MOUSE None
PATHWAYS hsa04140; hsa05014; hsa05022
43 combinations linked to C9orf72 OLI1626; OLI1623; OLI630; OLI638; OLI657; OLI624; OLI770; OLI631; OLI656; OLI830; OLI823; OLI765; OLI578; OLI774; OLI629; OLI632; OLI625; OLI771; OLI655; OLI605; OLI1621; OLI561; OLI627; OLI772; OLI764; OLI272; OLI822; OLI1009; OLI626; OLI1622; OLI628; OLI271; OLI769; OLI773; OLI273; OLI1458; OLI1011; OLI633; OLI1624; OLI579; OLI827; OLI637; OLI1625
5 variants linked to C9orf72 Copy Number Variant repeat on chromosome 9 repeating GGGGCC at least 30 times; Copy Number Variant repeat on chromosome 9 repeating GGGGCC at least 30 times and at most 100 times; Copy Number Variant repeat on chromosome 9 repeating GGGGCC at least 100 times; Copy Number Variant repeat on chromosome 9 repeating GGGGCC at least 145 times; Copy Number Variant repeat on chromosome 9 repeating GGGGCC at least 24 times
2 diseases linked to C9orf72 Frontotemporal dementia; Amyotrophic lateral sclerosis
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