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recql4
RECQL4
RECQL4 is a RecQ helicase that initiates DNA replication by recruiting the CMG complex and maintains mitochondrial DNA integrity; biallelic RECQL4 LOF → Rothmund-Thomson syndrome — poikiloderma, skeletal defects, and ~30% osteosarcoma risk; SCE is NOT elevated.
Entry Metadata
| Field | Value |
|---|---|
| ID | recql4 |
| Name | RECQL4 |
| Status | draft |
| Last reviewed | 2026-06-07 |
| Atlas | 01-human |
| Scale | 03-molecular |
Cross-Atlas Connections
Sources
- Kitao S, Shimamoto A, Goto M, et al. Mutations in RECQL4 cause a subset of cases of Rothmund-Thomson syndrome. Nat Genet. 1999;22(1):82-84. · PubMed 10319867
- Sangrithi MN, Bernal JA, Madine M, et al. Initiation of DNA replication requires the RECQL4 protein mutated in Rothmund-Thomson syndrome. Cell. 2005;121(6):887-898. · PubMed 15960976