Gene: ITGB3BP

Alternate names for this Gene: CENP-R|CENPR|HSU37139|NRIF3|TAP20

Gene Summary: This gene encodes a transcriptional coregulator that binds to and enhances the activity of members of the nuclear receptor families, thyroid hormone receptors and retinoid X receptors. This protein also acts as a corepressor of NF-kappaB-dependent signaling. This protein induces apoptosis in breast cancer cells through a caspase 2-mediated signaling pathway. This protein is also a component of the centromere-specific histone H3 variant nucleosome associated complex (CENP-NAC) and may be involved in mitotic progression by recruiting the histone H3 variant CENP-A to the centromere. Alternate splicing results in multiple transcript variants.

Gene is located in Chromosome: 1

Location in Chromosome : 1p31.3

Description of this Gene: integrin subunit beta 3 binding protein

Type of Gene: protein-coding

Gene: PGM1

Alternate names for this Gene: CDG1T|GSD14

Gene Summary: The protein encoded by this gene is an isozyme of phosphoglucomutase (PGM) and belongs to the phosphohexose mutase family. There are several PGM isozymes, which are encoded by different genes and catalyze the transfer of phosphate between the 1 and 6 positions of glucose. In most cell types, this PGM isozyme is predominant, representing about 90% of total PGM activity. In red cells, PGM2 is a major isozyme. This gene is highly polymorphic. Mutations in this gene cause glycogen storage disease type 14. Alternativley spliced transcript variants encoding different isoforms have been identified in this gene.

Gene is located in Chromosome: 1

Location in Chromosome : 1p31.3

Description of this Gene: phosphoglucomutase 1

Type of Gene: protein-coding