USP9Y
Function
Deubiquitinase that mediates deubiquitination of target proteins (PubMed:12895410). May stabilize target proteins that are important for male germ cell development (PubMed:12895410).
Involvement in disease
USP9Y is located in the 'azoospermia factor a' (AZFa) region on chromosome Y which is deleted in Sertoli cell-only syndrome. This is an infertility disorder in which no germ cells are visible in seminiferous tubules leading to azoospermia. However, AZFa deletions resulting in complete loss of USP9Y have also been found in normospermic men (PubMed:19246359).
Spermatogenic failure Y-linked 2
SPGFY2
A disorder resulting in the absence (azoospermia) or reduction (oligozoospermia) of sperm in the semen, leading to male infertility.
None
The disease may be caused by variants affecting the gene represented in this entry. The role of USP9Y in spermatogenesis failure is uncertain (PubMed:19246359). A 4-bp deletion in a splice-donor site, causing exon skipping and protein truncation has been observed in non-obstructive azoospermia (PubMed:10581029). However, complete USP9Y deletion has been detected in individuals with no spermatogenic defects (PubMed:19246359).
Pathway
Protein modification; protein ubiquitination.
Sequence Similarities
Belongs to the peptidase C19 family.
Tissue Specificity
Widely expressed in embryonic and adult tissues.
Alternative names
DFFRY, USP9Y, Ubiquitin carboxyl-terminal hydrolase 9Y, Deubiquitinating enzyme FAF-Y, Ubiquitin thioesterase FAF-Y, Ubiquitin-specific-processing protease FAF-Y