C2orf88
Description
The C2ORF88 (chromosome 2 open reading frame 88) is a protein-coding gene located on chromosome 2.
C2ORF88 binds to type I regulatory subunits of protein kinase A (PKA-RI) and may help anchor or target these subunits to the plasma membrane.
C2ORF88 is also known as smAKAP.
Associated Diseases
- beta-thalassemia-X-linked thrombocytopenia syndrome
- familial isolated congenital asplenia
- hemoglobin D disease
- hereditary persistence of fetal hemoglobin-sickle cell disease syndrome
- hemoglobin C-beta-thalassemia syndrome
- alpha-thalassemia-myelodysplastic syndrome
- dominant beta-thalassemia
- hemoglobin H disease
- hemolytic anemia due to diphosphoglycerate mutase deficiency
- thrombocythemia 2
- hemoglobin E disease
- delta-beta-thalassemia
- primary familial polycythemia due to EPO receptor mutation
- hemoglobin E-beta-thalassemia syndrome
- thrombocytopenia, anemia, and myelofibrosis
