FCHO1 wt Allele

**Semantic type:** Gene or Genome

**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.

**Synonyms:** - FCH Domain Only 1 Gene - FCH and Mu Domain Containing Endocytic Adaptor 1 wt Allele - IMD76 - KIAA0290