Aliases for ACD Gene
External Ids for ACD Gene
Previous GeneCards Identifiers for ACD Gene
This gene encodes a protein that is involved in telomere function. This protein is one of six core proteins in the telosome/shelterin telomeric complex, which functions to maintain telomere length and to protect telomere ends. Through its interaction with other components, this protein plays a key role in the assembly and stabilization of this complex, and it mediates the access of telomerase to the telomere. Multiple transcript variants encoding different isoforms have been found for this gene. This gene, which is also referred to as TPP1, is distinct from the unrelated TPP1 gene on chromosome 11, which encodes tripeptidyl-peptidase I. [provided by RefSeq, Jul 2008]
GeneCards Summary for ACD Gene
ACD (ACD, Shelterin Complex Subunit And Telomerase Recruitment Factor) is a Protein Coding gene. Diseases associated with ACD include Dyskeratosis Congenita, Autosomal Dominant 6 and Acd-Related Dyskeratosis Congenita. Among its related pathways are DNA Damage and Cellular Senescence (REACTOME). GO annotations related to this gene include DNA polymerase binding.
UniProtKB/Swiss-Prot for ACD Gene
Component of the shelterin complex (telosome) that is involved in the regulation of telomere length and protection. Shelterin associates with arrays of double-stranded TTAGGG repeats added by telomerase and protects chromosome ends. Without its protective activity, telomeres are no longer hidden from the DNA damage surveillance and chromosome ends are inappropriately processed by DNA repair pathways. Promotes binding of POT1 to single-stranded telomeric DNA. Modulates the inhibitory effects of POT1 on telomere elongation. The ACD-POT1 heterodimer enhances telomere elongation by recruiting telomerase to telomeres and increasing its processivity. May play a role in organogenesis.