Gene: COL7A1
Alternate names for this Gene: EBD1|EBDCT|EBR1|NDNC8
Gene Summary: This gene encodes the alpha chain of type VII collagen. The type VII collagen fibril, composed of three identical alpha collagen chains, is restricted to the basement zone beneath stratified squamous epithelia. It functions as an anchoring fibril between the external epithelia and the underlying stroma. Mutations in this gene are associated with all forms of dystrophic epidermolysis bullosa. In the absence of mutations, however, an acquired form of this disease can result from an autoimmune response made to type VII collagen.
Gene is located in Chromosome: 3
Location in Chromosome : 3p21.31
Description of this Gene: collagen type VII alpha 1 chain
Type of Gene: protein-coding
Gene: PFKFB4
Alternate names for this Gene: -
Gene Summary: The protein encoded by this gene is one of four bifunctional kinase/phosphatases that regulate the concentration of the glycolytic byproduct fructose-2,6-bisphosphate (F2,6BP). The encoded protein is highly expressed in cancer cells and is induced by hypoxia. This protein is essential to the survival of cancer cells under conditions of hypoxia, because it increases the amount of F2,6BP and ATP at a time when the cell cannot produce much of them. This finding suggests that this protein may be a good target for disruption in cancer cells, hopefully imperiling their survival. Several transcript variants encoding different isoforms have been found for this gene.
Gene is located in Chromosome: 3
Location in Chromosome : 3p21.31
Description of this Gene: 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 4
Type of Gene: protein-coding
Gene: UCN2
Alternate names for this Gene: SRP|UCN-II|UCNI|UR|URP
Gene Summary: This gene is a member of the sauvagine/corticotropin-releasing factor/urotensin I family. It is structurally related to the corticotropin-releasing factor (CRF) gene and the encoded product is an endogenous ligand for CRF type 2 receptors. In the brain it may be responsible for the effects of stress on appetite. In spite of the gene family name similarity, the product of this gene has no sequence similarity to urotensin II.
Gene is located in Chromosome: 3
Location in Chromosome : 3p21.31
Description of this Gene: urocortin 2
Type of Gene: protein-coding