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SMC1A

Gene

structural maintenance of chromosomes 1A

HGNCHGNC:11111EnsemblENSG00000072501NCBI Gene8243
Locus: gene with protein productLocation: Xp11.22

Also known as

Symbols and names change; identity (the HGNC ID) does not. Previous and alternative forms are kept distinct.

Also known asSMC1L1 · Smcb · DXS423E · KIAA0178 · SB1.8
View full nomenclature history (7)
Previous symbolsSMC1L1
Alias symbolsSmcb, DXS423E, KIAA0178, SB1.8
Previous namesSMC1 (structural maintenance of chromosomes 1, yeast)-like 1, SMC1 structural maintenance of chromosomes 1-like 1 (yeast)

Associated diseases

via associated_with

Diseases linked to this gene through the canonical GENE→DISEASE (associated_with) relation, drawn from Open Targets' top-ranked associations by overall score — not the full association set. Disease-level detail lives on each disease's own page.

De Lange Syndrome
Genetic developmental and epileptic encephalopathy
Genetic Diseases, Inborn
atypical Rett syndrome
Microcephaly

Drawn from Open Targets’ top 10 associations by overall score for this gene — the subset resolved to a canonical disease. Lower-ranked associations, and diseases not yet canonicalised, are not shown.

Gene family

HGNC gene-group membership.

Structural maintenance of chromosomes proteinsCohesin complexMicroRNA protein coding host genes

Provenance

HGNCCanonical human gene identity from HGNC (release 2026-07-07), updated 2023-01-20.
Open TargetsGene–disease associations from the Open Targets Platform.