Gene: PHF7

Alternate names for this Gene: HSPC045|HSPC226|NYD-SP6

Gene Summary: Spermatogenesis is a complex process regulated by extracellular and intracellular factors as well as cellular interactions among interstitial cells of the testis, Sertoli cells, and germ cells. This gene is expressed in the testis in Sertoli cells but not germ cells. The protein encoded by this gene contains plant homeodomain (PHD) finger domains, also known as leukemia associated protein (LAP) domains, believed to be involved in transcriptional regulation. The protein, which localizes to the nucleus of transfected cells, has been implicated in the transcriptional regulation of spermatogenesis. Alternate splicing results in multiple transcript variants of this gene.

Gene is located in Chromosome: 3

Location in Chromosome : 3p21.1

Description of this Gene: PHD finger protein 7

Type of Gene: protein-coding

Gene: BAP1

Alternate names for this Gene: HUCEP-13|UCHL2|hucep-6

Gene Summary: This gene belongs to the ubiquitin C-terminal hydrolase subfamily of deubiquitinating enzymes that are involved in the removal of ubiquitin from proteins. The encoded enzyme binds to the breast cancer type 1 susceptibility protein (BRCA1) via the RING finger domain of the latter and acts as a tumor suppressor. In addition, the enzyme may be involved in regulation of transcription, regulation of cell cycle and growth, response to DNA damage and chromatin dynamics. Germline mutations in this gene may be associated with tumor predisposition syndrome (TPDS), which involves increased risk of cancers including malignant mesothelioma, uveal melanoma and cutaneous melanoma.

Gene is located in Chromosome: 3

Location in Chromosome : 3p21.1

Description of this Gene: BRCA1 associated protein 1

Type of Gene: protein-coding