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IKK gamma Polyclonal Antibody, 50ul[BT-AP02164] Peptide Library Alternate splicing of this gene

SKU: 69736280902

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IKK gamma Polyclonal Antibody, 50ul[BT-AP02164] Peptide Library Alternate splicing of this geneThis 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.

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Description

Alternate splicing of this gene generates several transcript variants encoding different isoforms

a mitochondrial inner membrane Ca2+ channel

Defects in this gene have been reported to cause spastic paraplegia autosomal dominant type 42 (SPG42) in one Chinese family| but not in similar patients of European descent

The product of this gene belongs to the beta subfamily of regulatory subunit B''

IKK gamma Polyclonal Antibody, 50ul[BT-AP02164] Peptide Library Alternate splicing of this geneThis 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.

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