ACD Chromosome 16
ACD shelterin complex subunit and telomerase recruitment factor
Upload your DNA to see your personal genotypes for variants in ACD.
What This Gene Does
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]
Gene Info
Gene Group
Shelterin complex
Locus Type
gene with protein product
Location
16q22.1
Ensembl
ENSG00000102977
Associated Conditions (6)
Inborn genetic diseases
Dyskeratosis congenita
autosomal dominant 6
ACD-related disorder
ACD-related short telomere syndrome
autosomal recessive 7
Key Variants
RS1235168823
Conflicting classifications of pathogenicity
Inborn genetic diseases, Dyskeratosis congenita, autosomal dominant 6
Health Risk
RS1235862680
Conflicting classifications of pathogenicity
Dyskeratosis congenita, autosomal dominant 6, Inborn genetic diseases
Health Risk
RS1260047390
Conflicting classifications of pathogenicity
Inborn genetic diseases, Dyskeratosis congenita, autosomal dominant 6
Health Risk
RS139438549
Conflicting classifications of pathogenicity
Dyskeratosis congenita, autosomal dominant 6, ACD-related disorder
Health Risk
RS1397584716
Conflicting classifications of pathogenicity
Dyskeratosis congenita, autosomal dominant 6, Inborn genetic diseases
Health Risk
RS145007645
Conflicting classifications of pathogenicity
Dyskeratosis congenita, autosomal dominant 6, Inborn genetic diseases
Health Risk
RS149365469
Conflicting classifications of pathogenicity
Dyskeratosis congenita, autosomal dominant 6, Inborn genetic diseases
Health Risk
RS199626332
Conflicting classifications of pathogenicity
Dyskeratosis congenita, autosomal dominant 6, Dyskeratosis congenita
Health Risk
RS200293827
Conflicting classifications of pathogenicity
Dyskeratosis congenita, autosomal dominant 6, Inborn genetic diseases
Health Risk
RS2052976709
Conflicting classifications of pathogenicity
Inborn genetic diseases, Dyskeratosis congenita, autosomal dominant 6
Health Risk
RS2052978830
Conflicting classifications of pathogenicity
Inborn genetic diseases, Dyskeratosis congenita, autosomal dominant 6
Health Risk
RS368783801
Conflicting classifications of pathogenicity
Dyskeratosis congenita, autosomal dominant 6, Inborn genetic diseases
Health Risk
All Variants (30)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1235168823 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Dyskeratosis congenita, autosomal dominant 6 |
| RS1235862680 | Health Risk | Conflicting classifications of pathogenicity | Dyskeratosis congenita, autosomal dominant 6, Inborn genetic diseases |
| RS1260047390 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Dyskeratosis congenita, autosomal dominant 6 |
| RS139438549 | Health Risk | Conflicting classifications of pathogenicity | Dyskeratosis congenita, autosomal dominant 6, ACD-related disorder |
| RS1397584716 | Health Risk | Conflicting classifications of pathogenicity | Dyskeratosis congenita, autosomal dominant 6, Inborn genetic diseases |
| RS145007645 | Health Risk | Conflicting classifications of pathogenicity | Dyskeratosis congenita, autosomal dominant 6, Inborn genetic diseases |
| RS149365469 | Health Risk | Conflicting classifications of pathogenicity | Dyskeratosis congenita, autosomal dominant 6, Inborn genetic diseases |
| RS199626332 | Health Risk | Conflicting classifications of pathogenicity | Dyskeratosis congenita, autosomal dominant 6, Dyskeratosis congenita |
| RS200293827 | Health Risk | Conflicting classifications of pathogenicity | Dyskeratosis congenita, autosomal dominant 6, Inborn genetic diseases |
| RS2052976709 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Dyskeratosis congenita, autosomal dominant 6 |
| RS2052978830 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Dyskeratosis congenita, autosomal dominant 6 |
| RS368783801 | Health Risk | Conflicting classifications of pathogenicity | Dyskeratosis congenita, autosomal dominant 6, Inborn genetic diseases |
| RS377247506 | Health Risk | Conflicting classifications of pathogenicity | Dyskeratosis congenita, autosomal dominant 6, Inborn genetic diseases |
| RS534010648 | Health Risk | Conflicting classifications of pathogenicity | Dyskeratosis congenita, autosomal dominant 6, Inborn genetic diseases |
| RS553014261 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Dyskeratosis congenita, autosomal dominant 6 |
| RS747913250 | Health Risk | Conflicting classifications of pathogenicity | Dyskeratosis congenita, autosomal dominant 6, Inborn genetic diseases |
| RS752006255 | Health Risk | Conflicting classifications of pathogenicity | Dyskeratosis congenita, autosomal dominant 6, Inborn genetic diseases |
| RS753666055 | Health Risk | Conflicting classifications of pathogenicity | Dyskeratosis congenita, autosomal dominant 6, Dyskeratosis congenita |
| RS755371076 | Health Risk | Conflicting classifications of pathogenicity | Dyskeratosis congenita, autosomal dominant 6, Inborn genetic diseases |
| RS756845439 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Dyskeratosis congenita, autosomal dominant 6 |
| RS772377460 | Health Risk | Conflicting classifications of pathogenicity | Dyskeratosis congenita, autosomal dominant 6, Inborn genetic diseases |
| RS772943251 | Health Risk | Conflicting classifications of pathogenicity | Dyskeratosis congenita, autosomal dominant 6, Dyskeratosis congenita |
| RS774558672 | Health Risk | Conflicting classifications of pathogenicity | Dyskeratosis congenita, autosomal dominant 6, Inborn genetic diseases |
| RS775607009 | Health Risk | Conflicting classifications of pathogenicity | Dyskeratosis congenita, autosomal dominant 6, Inborn genetic diseases |
| RS776842448 | Health Risk | Conflicting classifications of pathogenicity | Dyskeratosis congenita, autosomal dominant 6, Inborn genetic diseases |
| RS779383442 | Health Risk | Conflicting classifications of pathogenicity | Dyskeratosis congenita, autosomal dominant 6, Inborn genetic diseases |
| RS759257949 | Health Risk | Likely pathogenic | Dyskeratosis congenita, autosomal dominant 6, Dyskeratosis congenita |
| RS1277350671 | Health Risk | Pathogenic | Dyskeratosis congenita, autosomal dominant 6, Dyskeratosis congenita |
| RS1303559181 | Health Risk | Pathogenic | Dyskeratosis congenita, autosomal dominant 6, Dyskeratosis congenita |
| RS797045144 | Health Risk | Pathogenic | Dyskeratosis congenita, autosomal dominant 6, autosomal recessive 7 |