family with sequence similarity 111 member B
The FAM111B gene provides instructions for making a protein whose function is not well understood. The FAM111B protein, which is found in many parts of the body, contains a functional region called a peptidase domain. Similar proteins containing such a domain are able to break down other proteins. However, the types of proteins the FAM111B protein interacts with and the roles it plays in the body are unknown.
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 many parts of the body, particularly the skin, muscles, lungs, and pancreas.
The FAM111B gene mutations that cause POIKTMP result in production of an abnormal FAM111B protein from one copy of the gene in each cell. Because most of the FAM111B mutations identified in people with POIKTMP change single protein building blocks (amino acids) in the peptidase domain, researchers think that the mutations alter the protein's function, and that these changes in FAM111B function underlie the varied signs and symptoms of POIKTMP.
- cancer-associated nucleoprotein
- protein FAM111B isoform a
- protein FAM111B isoform b