Gene Symbol | ACD |
Entrez Gene ID | 65057 |
Full Name | ACD, shelterin complex subunit and telomerase recruitment factor |
Synonyms | PIP1,PTOP,TINT1,TPP1 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | 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]. |
Disorder MIM: | |
Disorder Html: | ?Dyskeratosis congenita, autosomal dominant 6, 616553 (3); ?Dyskeratosis congenita, autosomal recessive 7, 616553 (3) |