IFRD1

IFRD1

A gene on chromosome 7q31.1 that encodes an IFN-gamma-related protein, which may function as a transcriptional co-activator/repressor that controls the growth and differentiation of specific cell types during embryonic development and tissue regeneration.

Molecular pathology
IFRD1 mutations are associated with sensory/motor neuropathy with ataxia; it may also be involved in modulating the pathogenesis of cystic fibrosis lung disease.
References in periodicals archive ?
demonstrated that interferon-related development regulator-1(IFRD1) expression of neutrophils was systemically upregulated in CF.
On the other hand, MCL1, IFRD1, JAG1, MAFB, CAP1, and FGD6 genotypes were among the downregulated genes.
In addition, 215 differentially methylated genes related to axonal regeneration including Ifrd1, Unc5c, and Ntrk2 were found.
Biological Gene number Partial related methylated genes function Adhesion 580 Sox-2, Shh, Itpkb, Pkd1, Reln, Ptk2b, Nck2, Ass1 Lphn1, Cdh9, Epdr1, Myf5, Pdpn, Has2, Fgfrl1, Fer Secretion 553 Lphn1, Pim3, Fst, Pim3, Pcsk6, Lax1, Sct, Sytl3 Plcd1, Ykt6, Jak1, Stat2, Myc, Csf2, Lifr, Sos1 Proliferation 787 Dixdc1, Lrp6, Edn3, Nkx2, Cyr61, Src, Sox8, Stk4 Ephb1, Sstr3, Rrm2, Tcf3, Grn, Rhoa, Apc, Nox4, Strn Neuronal 473 Bhlhb9, Cckar, Fzd2, Thy1, Pbx3, regeneration Otx2, Lhx8, Btg2 Klhl1, Dlg2, Pak1, Wnt3, Mif, Tctn1, Evl, Ext1, Als2 Axonal 215 Ifrd1, c-Jun, Bcl2, Tnn, Mbp, Slit3, regeneration Ist1, Drgx, Thy1 Unc5c, Ntrk2, Isl1, Ptk2, Dscam, Atl1, Dnm2, Cxcl12 Figure 3: (a) The distribution of differentially methylated regions (DMRs) peaks in different components of genome.
After studying nearly 3,000 cystic fibrosis patients, the team found small genetic differences in a gene called IFRD1 linked to lung disease severity.
During the analysis, the researchers discovered that the protein encoded by IFRD1 is particularly abundant in a type of white blood cell called neutrophils, and that it regulates their function.
For understanding the IFRD1's role further, the researchers looked at mice in which the gene was removed.
While studying the blood samples from healthy human volunteers, the researchers found that the same IFRD1 variations that modified cystic fibrosis lung disease severity also altered neutrophil function in the healthy volunteers.
"It's possible that IFRD1 itself could become a target for treatment, but right now it's a signpost to pathways for further study," Karp said.
They said a study of 3000 patients revealed levels of the gene IFRD1 varied with the severity of the disease, which destroys the lungs.
Cincinnati Children's Hospital Medical Centre in the US discovered the protein made by IFRD1 runs part of the immune system that can damage people's airways.
Study leader Dr Christopher Karp: "It's possible IFRD1 could become a target for treatment."