HomeAboutRankingsData Sources
Β© 2026 GeneE
🧬
GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
ACD
ACD shelterin complex subunit and telomerase recruitment factor
Chromosome 16 Β· 16q22.1
NCBI Gene: 65057Ensembl: ENSG00000102977.18HGNC: HGNC:25070UniProt: A0A8Q3WM11
125PubMed Papers
22Diseases
0Drugs
5Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
telomere maintenanceprotein bindingtelomerase inhibitor activitytelomeric repeat DNA bindingdyskeratosis congenita, autosomal dominant 6dyskeratosis congenitaneurodegenerative diseaseminimally differentiated acute myeloblastic leukemia
✦AI Summary

The provided abstracts do not contain information about the ACD gene (ACD shelterin complex subunit and telomerase recruitment factor). All references to 'ACD' in these abstracts refer to 'allergic contact dermatitis' 123, 'anaemia of chr16 disease' 4, 'autophagic cell death' 5, or 'all-cause dementia' 6 - none relate to the ACD gene function. One abstract mentions TPP1 as part of the telomeric shelterin complex and its role in telomerase regulation 7, but does not specifically discuss the ACD gene. Without relevant abstracts describing the ACD gene's molecular functions, mechanisms of action, disease associations, or clinical significance, I cannot provide a scientifically grounded summary of this gene's function. Additional literature specifically focusing on the ACD gene and its role in telomere biology would be required to generate an accurate functional summary.

Sources cited
1
Mentions TPP1 as part of telomeric shelterin complex but does not discuss ACD gene specifically
PMID: 17373762
⚠Limited data available β€” This gene has 1 indexed publication. Summary and analysis may be incomplete.
Disease Associationsβ“˜22
dyskeratosis congenita, autosomal dominant 6Open Targets
0.73Strong
dyskeratosis congenitaOpen Targets
0.68Moderate
neurodegenerative diseaseOpen Targets
0.52Moderate
minimally differentiated acute myeloblastic leukemiaOpen Targets
0.46Moderate
ACD-related short telomere syndromeOpen Targets
0.37Weak
Hoyeraal-Hreidarsson syndromeOpen Targets
0.37Weak
hereditary isolated aplastic anemiaOpen Targets
0.37Weak
inherited aplastic anemiaOpen Targets
0.37Weak
genetic disorderOpen Targets
0.19Weak
Clouston syndromeOpen Targets
0.05Suggestive
congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiencyOpen Targets
0.05Suggestive
familial glucocorticoid deficiencyOpen Targets
0.05Suggestive
familial adrenal hypoplasia with absent pituitary luteinizing hormoneOpen Targets
0.05Suggestive
pigmented nodular adrenocortical disease, primary, 3Open Targets
0.05Suggestive
Adrenocorticotropic hormone deficiencyOpen Targets
0.05Suggestive
glucocorticoid-remediable aldosteronismOpen Targets
0.05Suggestive
hypotrichosis simplexOpen Targets
0.04Suggestive
migraine disorderOpen Targets
0.04Suggestive
pituitary adenoma 3, multiple typesOpen Targets
0.04Suggestive
Pituitary Gland AdenomaOpen Targets
0.04Suggestive
Dyskeratosis congenita, autosomal dominant, 6UniProt
Dyskeratosis congenita, autosomal recessive, 7UniProt
Pathogenic Variants5
NM_001082486.2(ACD):c.493+1G>TLikely pathogenic
not provided
β˜…β˜†β˜†β˜†2025
NM_001082486.2(ACD):c.250_252del (p.Lys84del)Pathogenic
Dyskeratosis congenita, autosomal dominant 6|Dyskeratosis congenita, autosomal recessive 7
β˜…β˜†β˜†β˜†2022β†’ Residue 84
NM_001082486.2(ACD):c.152del (p.Thr51fs)Likely pathogenic
Dyskeratosis congenita, autosomal dominant 6
β˜…β˜†β˜†β˜†β†’ Residue 51
NM_001082486.2(ACD):c.244GAG[1] (p.Glu83del)Pathogenic
Dyskeratosis congenita, autosomal dominant 6
β˜…β˜†β˜†β˜†β†’ Residue 83
NM_001082486.2(ACD):c.361del (p.Asp121fs)Pathogenic
Dyskeratosis congenita, autosomal dominant 6
β˜…β˜†β˜†β˜†β†’ Residue 121
View on ClinVar β†—
Related Genes
TNKSProtein interaction100%RTEL1Protein interaction100%NOP10Protein interaction100%DKC1Protein interaction100%NUPR2Protein interaction99%XRCC6Protein interaction93%
Tissue Expression6 tissues
Ovary
100%
Lung
42%
Bone Marrow
41%
Brain
39%
Liver
31%
Heart
25%
Gene Interaction Network
Click a node to explore
ACDTNKSRTEL1NOP10DKC1NUPR2XRCC6
PROTEIN STRUCTURE
Preparing viewer…
PDB5H65 Β· 2.10 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.92LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.71 [0.55–0.92]
RankingsWhere ACD stands among ~20K protein-coding genes
  • #3,752of 20,598
    Most Researched125 Β· top quartile
  • #3,510of 5,498
    Most Pathogenic Variants5
  • #8,456of 17,882
    Most Constrained (LOEUF)0.92
Genes detectedACD
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Plasma proteomic profiles predict future dementia in healthy adults.
PMID: 38347190
Nat Aging Β· 2024
1.00
2
Allergic Contact Dermatitis.
PMID: 27886903
Immunol Allergy Clin North Am Β· 2017
0.90
3
Activation of Mast-Cell-Expressed Mas-Related G-Protein-Coupled Receptors Drives Non-histaminergic Itch.
PMID: 31027996
Immunity Β· 2019
0.80
4
ATF4 links ER stress with reticulophagy in glioblastoma cells.
PMID: 33111629
Autophagy Β· 2021
0.70
5
Tetraspanins distinguish separate extracellular vesicle subpopulations in human serum and plasma - Contributions of platelet extracellular vesicles in plasma samples.
PMID: 35524458
J Extracell Vesicles Β· 2022
0.60