NCIt synonyms : FCH Domain Only 1 Gene; KIAA0290; IMD76; FCH and Mu Domain Containing Endocytic Adaptor 1 wt Allele;
NCIt definition : Human FCHO1 wild-type allele is located in the vicinity of 19p13.11 and is approximately
41 kb in length. This allele, which encodes F-BAR domain only protein 1, plays a role
in the modulation of clathrin-mediated endocytosis of bone morphogenic protein receptors.
Mutation of the gene is associated with autosomal recessive immunodeficiency 76.;
OMIM relation