FAM120C
Description
The FAM120C (family with sequence similarity 120 member C) is a protein-coding gene located on chromosome X.
Family with sequence similarity 120C is a protein in humans that is encoded by the FAM120C gene. This gene encodes a potential transmembrane protein and lies in a region where mutations and deletions have been associated with intellectual disability and autism. Alternative splicing results in multiple transcript variants.
FAM120C is also known as CXorf17, ORF34.
Associated Diseases
- glycoprotein storage disease
- hemoglobin H disease
- dominant beta-thalassemia
- hemoglobin C-beta-thalassemia syndrome
- neuronal ceroid lipofuscinosis 1
- combined immunodeficiency due to OX40 deficiency
- erythroleukemia, familial, susceptibility to
- hereditary neutrophilia
- hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome
- hemolytic anemia due to diphosphoglycerate mutase deficiency
- congenital dyserythropoietic anemia type 2
- beta-thalassemia-X-linked thrombocytopenia syndrome
- hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency
- ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome
- hereditary persistence of fetal hemoglobin-sickle cell disease syndrome
- cryohydrocytosis
