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FAM111B gene
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Gene

FAM111B gene

The FAM111B gene provides instructions for making a protein containing a peptidase domain, though its specific biological roles remain under investigation.

Normal Function

The FAM111B gene provides instructions for making a protein found in many parts of the body. This protein contains a functional region called a peptidase domain. Proteins with this domain are typically capable of breaking down other proteins; however, the specific proteins that FAM111B interacts with and its precise roles in the body are currently unknown.

Health Conditions Related to Genetic Changes

Hereditary fibrosing poikiloderma with tendon contractures, myopathy, and pulmonary fibrosis

At least six mutations in the FAM111B gene have been identified in people with hereditary fibrosing poikiloderma with tendon contractures, myopathy, and pulmonary fibrosis (POIKTMP). This disorder affects multiple body systems, particularly the skin, muscles, lungs, and pancreas.

Mutations associated with POIKTMP result in the production of an abnormal FAM111B protein. Because most identified mutations change single amino acids within the peptidase domain, researchers believe these mutations alter the protein's function, which in turn leads to the varied signs and symptoms observed in patients with this condition.

Other Names for This Gene

  • cancer-associated nucleoprotein
  • CANP
  • POIKTMP
  • protein FAM111B isoform a
  • protein FAM111B isoform b

Frequently Asked Questions

Early signs often include subtle skin changes such as mottled pigmentation, fine atrophy, or telangiectasia, especially on the face, neck, and upper limbs. Patients may also notice progressive muscle weakness, especially in the proximal limbs, and shortness of breath that worsens with exertion. If these symptoms appear together, especially in a family with a history of similar findings, a clinician may recommend targeted sequencing of the FAM111B gene.
Confirmation is typically done through next‑generation sequencing panels that include FAM111B, or through whole‑exome sequencing if a panel is inconclusive. The test analyzes DNA from a blood sample, looking for pathogenic variants in the coding regions of the gene. A variant of uncertain significance may require functional studies or segregation analysis in family members.
There is no cure, but multidisciplinary care can manage symptoms. For skin changes, topical retinoids and photoprotection help. Physical therapy and occupational therapy can improve muscle strength and reduce contractures. Pulmonary involvement may be treated with supplemental oxygen, pulmonary rehabilitation, and, in some cases, antifibrotic agents like pirfenidone or nintedanib, though evidence is limited. Early intervention often improves quality of life.
POIKTMP follows an autosomal dominant inheritance pattern. Each child of an affected parent has a 50 % chance of inheriting the pathogenic FAM111B variant. Genetic counseling and pre‑conception or prenatal testing can help families understand and manage this risk.===
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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