SRY-related Diseases and Defects
Individuals with XY genotype and functional SRY gene can have an outwardly female phenotype due to an underlying androgen insensitivity syndrome (AIS). SRY is essential for maleness. Loss of the SRY gene from the Y chromosome result in XY individuals, normally male, having female characteristics (Swyer syndrome).
SRY has been linked to the fact that men are more likely than women to develop dopamine-related diseases such as schizophrenia and Parkinson's disease. SRY makes a protein that controls concentrations of dopamine, the neurotransmitter that carries signals from the brain that control movement and coordination.
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