Recombinant Human Adrenocortical dysplasia protein homolog (ACD)

Uniprot Id

Q96AP0

Target Species

Human

Target Name

ACD

Target Full Name

Adrenocortical dysplasia protein homolog

Target Function

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.

Target Involvement

Dyskeratosis congenita, autosomal dominant, 6 (DKCA6); Dyskeratosis congenita, autosomal recessive, 7 (DKCB7)

Target Subcellular Location

Nucleus. Chromosome, telomere.

Target Synonyms

Acd; ACD_HUMAN; Adrenocortical dysplasia homolog; Adrenocortical dysplasia protein homolog; PIP1; POT1 and TIN2 organizing protein; POT1 and TIN2-interacting protein; TIN2 interacting protein 1; TINT1; TPP1

Target Background

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.