CFAP47


Description

The CFAP47 (cilia and flagella associated protein 47) is a protein-coding gene located on chromosome X.

CFAP47, also known as Cilia and Flagella Associated Protein 47, is a human gene located on the X chromosome at locus Xp21.1. It encodes a 3187 amino acid protein with seven splice variants and 64 exons. CFAP47 is expressed in 27 different tissues, with the liver, testis, thyroid, brain, and endometrium showing higher expression levels. Although associated with cilia and flagella, its exact function remains unknown. The gene has orthologs in various species, including mammals, birds, reptiles, amphibians, fish, invertebrates, and even sponges. There are no paralogs within the human genome.

CFAP47 is also known as CHDC2, CXorf22, CXorf30, CXorf59, SPGF52, SPGFX3.

Associated Diseases



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