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Basic information of NCF1 :

Official Symbol of Gene NCF1
Species Homo sapiens
Entrez Gene ID 653361
Official Full Name neutrophil cytosolic factor 1
Also known as CGD1; NCF1A; NOXO2; p47phox; SH3PXD1A
Gene Type protein coding
dbXrefs Ensembl:ENSG00000158517 MIM:608512; AllianceGenome:HGNC:7660
Map Location 7q11.23
Variation Type Deletion
refSNP ID dinucleotide deletion (ΔGT) in exon 2

Sample information of multiple sclerosis:

Detected Sample whole blood
Sample Detail N/A
Detected Method PCR
Disease MS
Disease subtype N/A
Population Polish
Sample Size 187 MS patients / 184 controls

Literature information of multiple sclerosis :

Pubmed ID 19077231
Year 2008
Title NCF1 gene and pseudogene pattern: association with parasitic infection and autoimmunity

Results of multiple sclerosis :

Risk Type Disease risk
Main Result Negative
Result DeltaGT/GTGT ratios were not associated with susceptibility to MS.
Mechanism/Pathway The ΔGT/GTGT ratio influences the expression levels of NCF1 most probably by the occurrence of an NCF1 transcript from the type II pseudogene that does not contain the GT deletion, which leads to a premature stop codon in the type I pseudogene.