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Gene

MUC1

mucin 1, cell surface associated

Summary

Cytogenetic location
1q22
Inheritance
Autosomal dominant
Also known as
CD227, PEM, ADMCKD, ADMCKD1, MCKD, MCD, KL-6, EMA, Ca15-3
Previous symbols
PUM, MCKD1
Locus type
gene with protein product
  • Very high
  • Confident
  • Low
  • Very low

Reference genomeGRCh38

Positions on gene and variant pages follow this choice, in this browser.

Curated report relevant to this gene

  • Autosomal Dominant Tubulointerstitial Kidney Disease

    • Autosomal Dominant Medullary Cystic Kidney DiseaseAutosomal dominant

      A dominantly inherited tubulointerstitial kidney disease, including the MUC1 form, that leads to slowly progressive kidney failure in adulthood.

      • ClinGen rates the link definitive
      • 2 GenCC submitters rate it definitive or strong
      What knowing changes

      Knowing supports kidney function monitoring and careful evaluation of related living kidney donors.

    • Familial Juvenile Hyperuricemic NephropathyAutosomal dominant

      A dominantly inherited tubulointerstitial kidney disease, most often caused by UMOD variants (and also REN or SEC61A1), with high uric acid, early gout and gradual loss of kidney function.

      • ClinGen rates the link definitive
      • 2 GenCC submitters rate it definitive or strong
      What knowing changes

      Knowing supports kidney function monitoring, gout treatment and careful evaluation of related living kidney donors; the REN form may respond to fludrocortisone.

Inheritance

Autosomal dominant
One changed copy, from either parent, is enough. A parent who has one passes it on to each child with a one-in-two chance.

How a genome test reads MUC1

8

positions in MUC1 where ClinVar classes a change as pathogenic or likely pathogenic

2 of them (25%) fall in regions short reads find hard.

  • Segmental duplications (2 sites)Copies of at least 1 kb sharing at least 90% identity with another part of the genome (paralogues, pseudogenes); reads may align to the wrong copy.

Where this comes from

  • HGNC: the gene's symbol, name, other symbols and location.
  • GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
  • The ACMG secondary findings list, SF v3.2.
  • ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
  • The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
  • Data release 2026.10.16-c6eea6bf.

Cite this page

APA

Dante Labs. (n.d.). MUC1 gene: mucin 1, cell surface associated. Retrieved 17 October 2026, from https://dantelabs.com/genes/muc1

Vancouver

Dante Labs. MUC1 gene: mucin 1, cell surface associated [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/muc1

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