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MKS1

Gene

MKS transition zone complex subunit 1

HGNCHGNC:7121EnsemblENSG00000011143NCBI Gene54903
Locus: gene with protein productLocation: 17q22

Also known as

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

Also known asMKS · FLJ20345 · POC12 · BBS13
View full nomenclature history (6)
Previous symbolsMKS
Alias symbolsFLJ20345, POC12, BBS13
Previous namesMeckel syndrome, type 1
Alias namesPOC12 centriolar protein homolog (Chlamydomonas)

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.

Bardet-Biedl Syndrome
Polycystic Kidney Diseases

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.

B9 domain containingMKS complex

Provenance

HGNCCanonical human gene identity from HGNC (release 2026-07-07), updated 2023-03-15.
Open TargetsGene–disease associations from the Open Targets Platform.