Gene: LOC105377347

Alternate names for this Gene:

Gene Summary:

Gene is located in Chromosome:

Location in Chromosome :

Description of this Gene:

Type of Gene:

Gene: NFKB1

Alternate names for this Gene: CVID12|EBP-1|KBF1|NF-kB|NF-kB1|NF-kappa-B1|NF-kappaB|NF-kappabeta|NFKB-p105|NFKB-p50|NFkappaB

Gene Summary: This gene encodes a 105 kD protein which can undergo cotranslational processing by the 26S proteasome to produce a 50 kD protein. The 105 kD protein is a Rel protein-specific transcription inhibitor and the 50 kD protein is a DNA binding subunit of the NF-kappa-B (NFKB) protein complex. NFKB is a transcription regulator that is activated by various intra- and extra-cellular stimuli such as cytokines, oxidant-free radicals, ultraviolet irradiation, and bacterial or viral products. Activated NFKB translocates into the nucleus and stimulates the expression of genes involved in a wide variety of biological functions. Inappropriate activation of NFKB has been associated with a number of inflammatory diseases while persistent inhibition of NFKB leads to inappropriate immune cell development or delayed cell growth. Alternative splicing results in multiple transcript variants encoding different isoforms, at least one of which is proteolytically processed.

Gene is located in Chromosome: 4

Location in Chromosome : 4q24

Description of this Gene: nuclear factor kappa B subunit 1

Type of Gene: protein-coding

rs4648133 in LOC105377347;NFKB1 gene and Systemic Scleroderma PMID 30247649 2019 Analysis of the genetic component of systemic sclerosis in Iranian and Turkish populations through a genome-wide association study.