Gene: PDCD6

Alternate names for this Gene: ALG-2|ALG2|PEF1B

Gene Summary: This gene encodes a calcium-binding protein belonging to the penta-EF-hand protein family. Calcium binding is important for homodimerization and for conformational changes required for binding to other protein partners. This gene product participates in T cell receptor-, Fas-, and glucocorticoid-induced programmed cell death. In mice deficient for this gene product, however, apoptosis was not blocked suggesting this gene product is functionally redundant. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and a pseudogene of this gene is also located on the short arm of chromosome 5.

Gene is located in Chromosome: 5

Location in Chromosome : 5p15.33

Description of this Gene: programmed cell death 6

Type of Gene: protein-coding

Gene: AHRR

Alternate names for this Gene: AHH|AHHR|bHLHe77

Gene Summary: The protein encoded by this gene participates in the aryl hydrocarbon receptor (AhR) signaling cascade, which mediates dioxin toxicity, and is involved in regulation of cell growth and differentiation. It functions as a feedback modulator by repressing AhR-dependent gene expression. Alternatively spliced transcript variants encoding different isoforms have been described for this gene.

Gene is located in Chromosome: 5

Location in Chromosome : 5p15.33

Description of this Gene: aryl-hydrocarbon receptor repressor

Type of Gene: protein-coding

rs1574220 in PDCD6;AHRR gene and Body Height PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.