Entity Details

Primary name FAM111B
Entity type gene
Source Source Link

Details

PrimaryID374393
RefseqGeneNG_034129
SymbolFAM111B
NameFAM111 trypsin like peptidase B
Chromosome11
Location11q12.1
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate2003-09-10
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsF111B_HUMAN

GO terms

Show/Hide Table
GOName
GO:0000785 chromatin
GO:0005634 nucleus
GO:0006260 DNA replication
GO:0008233 peptidase activity

Diseases

Show/Hide Table
Disease IDSourceNameDescription
615704 OMIMPoikiloderma, 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. The disease is caused by variants affecting the gene represented in this entry.