RECQL

A helical hairpin (residues 554-573) in the winged-helix proble DNA-binding domain couples the ATPase (and probably ssDNA translocation) to DNA unwinding (PubMed:19151156). The isolated WH domain (residues 481-624) anneals DNA as well as full-length protein (PubMed:25831490).

DNA helicase that plays a role in DNA damage repair and genome stability (PubMed:15886194, PubMed:35025765, PubMed:7527136, PubMed:7961977, PubMed:8056767). Exhibits a Mg(2+)- and ATP-dependent DNA-helicase activity that unwinds single- and double-stranded DNA in a 3'-5' direction (PubMed:19151156, PubMed:35025765, PubMed:7527136, PubMed:8056767). Full-length protein unwinds forked DNA substrates, resolves Holliday junctions, and has DNA strand annealing activity (PubMed:19151156, PubMed:25831490). Plays a role in restoring regressed replication forks (PubMed:35025765). Required to restart stalled replication forks induced by abortive topoisomerase 1 and 2 lesions (PubMed:35025765). Does not unwind G-quadruplex DNA (PubMed:18426915). May play a role in the repair of DNA that is damaged by ultraviolet light or other mutagens (PubMed:15886194, PubMed:7961977).

RECON progeroid syndrome

RECON

An autosomal recessive syndrome characterized by short stature, progeroid facial features, a hypoplastic nose, xeroderma, skin photosensitivity, muscle wasting with reduced subcutaneous fat, and slender elongated thumbs.

None

The disease is caused by variants affecting the gene represented in this entry.

Belongs to the helicase family. RecQ subfamily.

High expression in heart, lung, skeletal muscle and kidney, low expression in brain.

• Nucleus

RECQ1, RECQL1, RECQL, ATP-dependent DNA helicase Q1, DNA 3'-5' helicase Q1, DNA-dependent ATPase Q1, RecQ protein-like 1, RecQ1

• entrezGene:5965
• omim:600537
• swissprot:P46063

Proteins

73457Da