C10orf71

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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