SLX1B
Description
The SLX1B (SLX1 homolog B, structure-specific endonuclease subunit) is a protein-coding gene located on chromosome 16.
SLX1B is a catalytic subunit of the SLX1-SLX4 structure-specific endonuclease, which plays a crucial role in resolving DNA secondary structures that arise during DNA repair and recombination processes. This endonuclease exhibits endonuclease activity towards branched DNA substrates, specifically introducing single-strand cuts in duplex DNA near junctions with single-stranded DNA (ss-DNA). It demonstrates a preference for 5'-flap structures and facilitates symmetrical cleavage of both static and migrating Holliday junctions (HJs). SLX1B is involved in resolving HJs by generating two pairs of ligatable, nicked duplex products.
SLX1B is also known as GIYD2.
Associated Diseases
- isolated asymptomatic elevation of creatine phosphokinase
- plasma fibronectin deficiency
- FRAXF syndrome
- pentosuria
- myopathy due to calsequestrin and SERCA1 protein overload
- metabolic myopathy due to lactate transporter defect
- thanatophoric dysplasia
