This gene is similar to the protein kinase, X-linked gene in the pseudoautosomal region of the X chromosome. The gene is classified as a transcribed pseudogene because it has lost a coding exon that results in all transcripts being candidates for nonsense-mediated decay (NMD) and unlikely to express a protein. Abnormal recombination between this gene and a related gene on chromosome X is a frequent cause of XX males and XY females. [provided by RefSeq, Jul 2010]
DISEASE:
A chromosomal aberration involving PRKY is a cause of sex reversal disorder. Translocation t(X;Y)(p22;p11) with PRKX. Chromosomal translocations proximal to PRKY account for about 30% of the cases of sex reversal disorder in XX males and XY females.
Similarity:
Belongs to the protein kinase superfamily. AGC Ser/Thr protein kinase family. cAMP subfamily.
SWISS:
O43930
Gene ID:
5616
Database links:
Entrez Gene: 5616 Human
Omim: 80008 Human
SwissProt: O43930 Human
Unigene: 584730 Human
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