Basic information of C9orf72 :
| Official Symbol of Gene | C9orf72 |
| Species | Homo sapiens |
| Entrez Gene ID | 203228 |
| Official Full Name | C9orf72-SMCR8 complex subunit |
| Also known as | ALSFTD; DENND9; FTDALS; DENNL72; FTDALS1 |
| Gene Type | protein coding |
| dbXrefs | Ensembl:ENSG00000147894 MIM:614260; AllianceGenome:HGNC:28337 |
| Map Location | 9p21.2 |
| Variation Type | expansion |
| refSNP ID | N/A |
Sample information of multiple sclerosis:
| Detected Sample | peripheral blood |
| Sample Detail | N/A |
| Detected Method | Repeat Primed PCR |
| Disease | MS |
| Disease subtype | N/A |
| Population | Sardinian |
| Sample Size | 1014 MS patients / 333 HCs |
Literature information of multiple sclerosis :
| Pubmed ID | 26233805 |
| Year | 2015 |
| Title | A genetic association study of two genes linked to neurodegeneration in a Sardinian multiple sclerosis population: the TARDBP Ala382Thr mutation and C9orf72 expansion |
Results of multiple sclerosis :
| Risk Type | Disease risk |
| Main Result | Negative |
| Result | No C9orf72 expansion reported showing no difference in the frequency of this mutation with respect to HCs . |
| Mechanism/Pathway | C9orf72 is a gene encoding for two protein isoforms.Its function in cellular processes involves the regulation of membrane trafficking and gene expression. The expansion of C9orf72 gene induces the formation of repeat RNA aggregates that are shown to sequester proteins involved in RNA splicing, editing, nuclear export and nucleolar function. |
