CC2D1B

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Description

The CC2D1B (coiled-coil and C2 domain containing 1B) is a protein-coding gene located on chromosome 1.

CC2D1B acts as a transcription factor, specifically binding to the DRE (dual repressor element) within DNA. This binding leads to the repression of HTR1A gene transcription, which is particularly important in neuronal cells.

CC2D1B is also known as Lgd1.

Associated Diseases

• hemoglobin D disease
• dominant beta-thalassemia
• delta-beta-thalassemia
• hemoglobin E disease
• hemoglobin C-beta-thalassemia syndrome
• alpha-thalassemia-myelodysplastic syndrome
• hemoglobin E-beta-thalassemia syndrome
• hemoglobin H disease
• hereditary persistence of fetal hemoglobin-sickle cell disease syndrome
• hypertriglyceridemia 2
• beta-thalassemia-X-linked thrombocytopenia syndrome
• demyelinating disease