EFCC1

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Description

The EFCC1 (EF-hand and coiled-coil domain containing 1) is a protein-coding gene located on chromosome 3.

EF-hand and coiled-coil domain containing 1 is a protein that in humans is encoded by the EFCC1 gene.

EFCC1 is also known as C3orf73, CCDC48.

Associated Diseases

• hereditary persistence of fetal hemoglobin-sickle cell disease syndrome
• hemoglobin D disease
• delta-beta-thalassemia
• dominant beta-thalassemia
• hemoglobin C-beta-thalassemia syndrome
• hemoglobin E-beta-thalassemia syndrome
• alpha-thalassemia-myelodysplastic syndrome
• hemoglobin E disease
• hemoglobin H disease
• beta-thalassemia-X-linked thrombocytopenia syndrome
• hemoglobin M disease