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MUC1 gene
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Gene

MUC1 gene

The MUC1 gene provides instructions for creating the mucin 1 protein, which is essential for lubricating and protecting the linings of various organs and tissues.

Normal Function

The MUC1 gene provides instructions for making a protein called mucin 1. This protein is one of several mucin proteins that make up mucus, a slippery substance that lubricates and protects the lining of the airways, digestive system, reproductive system, and other organs. Mucin 1 is found in epithelial cells, which line the surfaces and cavities of the body.

Unlike most mucins, mucin 1 spans the cell membrane. It features a mucin domain containing repeated stretches of amino acids, which are modified by sugar molecules. These sugar chains act as a barrier against foreign invaders and help hydrate tissues. The portion of the protein that reaches inside the cell, known as the cytoplasmic tail (MUC1-CT), relays signals to the cell's nucleus to influence cell growth, division, adhesion, and survival.

Health Conditions Related to Genetic Changes

Medullary cystic kidney disease type 1

Mutations in the MUC1 gene cause medullary cystic kidney disease type 1 (MCKD1). This condition is characterized by progressively worsening kidney function that typically begins in adulthood, sometimes accompanied by the development of fluid-filled pockets in the kidneys known as medullary cysts.

The condition is caused by the insertion of a single DNA building block (nucleotide) called cytosine into the region of the gene that provides instructions for the repeating mucin domain. This results in an altered mucin 1 protein.

Other Names for This Gene

  • ADMCKD
  • ADMCKD1
  • breast carcinoma-associated antigen DF3
  • CA 15-3
  • cancer antigen 15-3
  • carcinoma-associated mucin
  • CD227
  • DF3 antigen
  • EMA
  • episialin
  • H23 antigen
  • H23AG
  • KL-6
  • krebs von den Lungen-6
  • MAM6
  • MCD
  • MCKD
  • MUC-1
  • MUC-1/SEC
  • MUC-1/X
  • MUC1/ZD
  • MUC1_HUMAN
  • mucin 1, transmembrane
  • mucin-1
  • peanut-reactive urinary mucin
  • PEM
  • PEMT
  • polymorphic epithelial mucin
  • PUM
  • tumor associated epithelial mucin
  • tumor-associated epithelial membrane antigen
  • tumor-associated mucin

Frequently Asked Questions

The insertion of a cytosine in the repeat region of MUC1 disrupts the normal mucin 1 protein structure, leading to abnormal protein folding and accumulation in kidney epithelial cells. This triggers tubular cell injury, cyst formation, and progressive loss of renal function.
Yes. A DNA test using a blood sample can detect the characteristic cytosine insertion. Screening is recommended for first‑degree relatives, especially if they show any kidney abnormalities. Early detection allows closer monitoring and timely intervention.
Management focuses on controlling blood pressure with ACE inhibitors or ARBs, reducing proteinuria, and maintaining a low‑salt, low‑protein diet. Some patients benefit from angiotensin‑converting‑enzyme inhibitors to slow fibrosis. Symptomatic treatments for pain or infections are also used. In advanced stages, dialysis or kidney transplantation may be necessary. Research into gene‑based therapies is ongoing but not yet clinically available.===
Patients often notice mild proteinuria, hematuria, or elevated serum creatinine before symptoms appear. Blood pressure may rise, and patients can develop mild edema. Regular urinalysis and serum creatinine checks every 6–12 months help catch early decline.
Source: MedlinePlus, National Library of Medicine

MedlinePlus brings together authoritative health information from the National Library of Medicine (NLM), the National Institutes of Health (NIH), and other government agencies and health-related organizations.

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