ACD

Also known as PIP1, PTOP, TINT1, TPP1, adrenocortical dysplasia homolog, ACD, shelterin complex subunit and telomerase recruitment factor, ACD shelterin complex subunit and telomerase recruitment factor

protein-coding gene in the species Homo sapiens

Gene data

ACD

Name: ACD shelterin complex subunit and telomerase recruitment factor
Type: protein-coding
Position: 67,657,512–67,660,810 (−)
Aliases: DKCA6, DKCB7, PIP1, PTOP, TINT1, TPP1
Ensembl: ENSG00000102977
RefSeq RNA: NM_001082486.2, NM_001082487.1, NM_001410884.1, NM_022914.3, XR_008484726.1
RefSeq protein: NP_001075955.2, NP_001397813.1, NP_075065.3

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].