FAM111B
Function
Serine protease.
Involvement in disease
Poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis
POIKTMP
An autosomal dominant form of hereditary poikiloderma, a genodermatosis characterized by mottled pigmentation, telangiectasia, and epidermal atrophy. POIKTMP features include tendon contracture, myopathy, and progressive pulmonary fibrosis. It manifests from early childhood with telangiectasia and pigmentary anomalies especially on the face and sun-exposed areas, tendon contractures that particularly involve the ankles and feet causing gait disturbance, and development of pulmonary fibrosis during the second decade of life resulting in progressive dyspnea and restrictive impairment of lung function.
None
The disease is caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the FAM111 family.
Tissue Specificity
Widely expressed.
Alternative names
CANP, FAM111B, Serine protease FAM111B, Cancer-associated nucleoprotein