C10orf71
Description
The C10ORF71 (chromosome 10 open reading frame 71) is a protein-coding gene located on chromosome 10.
C10ORF71 plays a crucial role in the growth of heart muscle cells (cardiomyocytes) by activating the calcineurin/NFAT signaling pathway.
C10ORF71 is also known as CEFIP.
Associated Diseases
- linear and whorled nevoid hypermelanosis
- neutropenia, severe congenital, 1, autosomal dominant
- eosinophil peroxidase deficiency
