SLX1B

Chr 16

structure-specific endonuclease subunit SLX1B

Also known as: GIYD2

NCBI Gene: 79008 ENSG00000181625 UniProt: Q9BQ83 OMIM: 615823

The protein functions as the catalytic subunit of the SLX1-SLX4 structure-specific endonuclease, which resolves DNA secondary structures and Holliday junctions during DNA repair and recombination processes. Pathogenic variants in SLX1B have not been definitively associated with human disease in the medical literature. The gene shows tolerance to loss-of-function variants (pLI = 0.04, LOEUF = 1.72), suggesting that complete loss of function may be compatible with normal development.

OMIM ResearchSummary from RefSeq, UniProt

This gene encodes a protein that is an important regulator of genome stability. The protein represents the catalytic subunit of the SLX1-SLX4 structure-specific endonuclease, which can resolve DNA secondary structures that are formed during repair and recombination processes. Two identical copies of this gene are located on the p arm of chromosome 16 due to a segmental duplication; this record represents the more telomeric copy. Alternative splicing results in multiple transcript variants. Read-through transcription also occurs between this gene and the downstream SULT1A4 (sulfotransferase family, cytosolic, 1A, phenol-preferring, member 4) gene. [provided by RefSeq, Nov 2010]

OMIM ResearchGenerating clinical summary…

LOEUF 1.72

Clinical Summary— SLX1B

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Population Constraint (gnomAD)

Low constraint (pLI 0.04) — loss-of-function variants are relatively tolerated in the population.

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