FAM111B, Official Symbol FAM111Bprovided by HGNC Official Full Name FAM111 trypsin like peptidase Bprovided by HGNC Primary source HGNC:HGNC:24200 See related Ensembl:ENSG00000189057 MIM:615584; AllianceGenome:HGNC:24200 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as CANP; POIKTMP Summary This gene encodes a protein with a trypsin-like cysteine/serine peptidase domain in the C-terminus. Mutations in this gene are associated with an autosomal dominant form of hereditary fibrosing poikiloderma (HFP). Affected individuals display mottled pigmentation, telangiectasia, epidermal atrophy, tendon contractures, and progressive pulmonary fibrosis. Alternative splicing results in multiple transcript variants encoding distinct isoforms. A paralog of this gene which also has a trypsin&#8208;like peptidase domain, FAM111A, is located only 16 kb from this gene on human chromosome 11q12.1. [provided by RefSeq, Apr 2014] Expression Broad expression in lymph node (RPKM 4.9), appendix (RPKM 2.8) and 17 other tissues See more Orthologs all