FAM111B Gene Set

Dataset Pathway Commons Protein-Protein Interactions
Category physical interactions
Type interacting protein
Description family with sequence similarity 111, member B|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‐like peptidase domain, FAM111A, is located only 16 kb from this gene on human chromosome 11q12.1. [provided by RefSeq, Apr 2014] (NCBI Entrez Gene Database, 374393)
External Link http://www.ncbi.nlm.nih.gov/gene/374393
Similar Terms
Downloads & Tools

Genes

2 interacting proteins for FAM111B from the Pathway Commons Protein-Protein Interactions dataset.

Symbol Name
ATP13A2 ATPase type 13A2
UBC ubiquitin C