Gene: IKBKG

Alternate names for this Gene: AMCBX1|EDAID1|FIP-3|FIP3|Fip3p|IKK-gamma|IKKAP1|IKKG|IMD33|IP|IP1|IP2|IPD2|NEMO|ZC2HC9

Gene Summary: This gene encodes the regulatory subunit of the inhibitor of kappaB kinase (IKK) complex, which activates NF-kappaB resulting in activation of genes involved in inflammation, immunity, cell survival, and other pathways. Mutations in this gene result in incontinentia pigmenti, hypohidrotic ectodermal dysplasia, and several other types of immunodeficiencies. A pseudogene highly similar to this locus is located in an adjacent region of the X chromosome.

Gene is located in Chromosome: X

Location in Chromosome : Xq28

Description of this Gene: inhibitor of nuclear factor kappa B kinase regulatory subunit gamma

Type of Gene: protein-coding

Gene: G6PD

Alternate names for this Gene: G6PD1

Gene Summary: This gene encodes glucose-6-phosphate dehydrogenase. This protein is a cytosolic enzyme encoded by a housekeeping X-linked gene whose main function is to produce NADPH, a key electron donor in the defense against oxidizing agents and in reductive biosynthetic reactions. G6PD is remarkable for its genetic diversity. Many variants of G6PD, mostly produced from missense mutations, have been described with wide ranging levels of enzyme activity and associated clinical symptoms. G6PD deficiency may cause neonatal jaundice, acute hemolysis, or severe chronic non-spherocytic hemolytic anemia. Two transcript variants encoding different isoforms have been found for this gene.

Gene is located in Chromosome: X

Location in Chromosome : Xq28

Description of this Gene: glucose-6-phosphate dehydrogenase

Type of Gene: protein-coding