PHD finger protein 7

PHD finger protein 7 (PHF7) is a protein that in humans is encoded by the PHF7 gene. This protein is a member of the PHD finger protein family, a group of proteins characterized by the presence of a PHD finger domain, a zinc-finger-like motif.

Function

The PHF7 protein is a transcription factor that plays a crucial role in spermatogenesis, the process of male gamete production. It is predominantly expressed in the testis, where it is involved in the regulation of gene expression during the early stages of spermatogenesis.

Structure

The PHF7 protein contains a PHD finger domain, which is a common structural feature among proteins involved in chromatin remodeling. This domain allows the protein to interact with other proteins and DNA, facilitating its role in gene regulation.

Clinical significance

Mutations in the PHF7 gene have been associated with disorders of sex development (DSDs), including 46,XY DSD and gonadal dysgenesis. These conditions are characterized by atypical development of sexual characteristics and reproductive organs.

Research

Research into the function and structure of PHF7 is ongoing, with studies focusing on its role in spermatogenesis and its potential involvement in other biological processes.

See also

• PHD finger protein
• Spermatogenesis
• Transcription factor
• Chromatin remodeling