ACD - Gene Detail
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| Gene Symbol | ACD | ||||||||||||
| Synonyms | DKCA6 | DKCB7 | PIP1 | PTOP | TINT1 | TPP1 | ||||||||||||
| Gene Description | ACD, ACD shelterin complex subunit and telomerase recruitment factor, encodes a component of the telomeric shelterin protein complex (PMID: 28393830), and plays a role in the maintenance of telomeres (PMID: 16880378) and telomerase recruitment, activity, and processivity (PMID: 23103865, PMID: 17237767, PMID: 17237768). Germline mutations in ACD have been identified in familial melanoma (PMID: 25505254, PMID: 33050356) and familial chronic lymphocytic leukemia (PMID: 27528712), and a somatic mutation has been identified in childhood pre-B acute lymphoblastic leukemia (PMID: 26345285). | ||||||||||||
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