CCDC59
Description
The CCDC59 (coiled-coil domain containing 59) is a protein-coding gene located on chromosome 12.
CCDC59 is a component of the transcription complexes responsible for regulating the expression of pulmonary surfactant-associated proteins B (SFTPB) and C (SFTPC). It enhances the activity of the SFTPB and SFTPC promoters when activated by the homeobox protein Nkx-2.1.
CCDC59 is also known as BR22, HSPC128, TAP26.
Associated Diseases
- early-onset non-syndromic cataract
- isolated ectopia lentis
- cataract
- hemolytic anemia due to glutathione reductase deficiency
- hereditary hyperferritinemia with congenital cataracts
- cataract 13 with adult I phenotype
- cataract 38
- alpha thalassemia-intellectual disability syndrome type 1
- hemoglobin D disease
