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The enzyme Phosphate Cytidylyltransferase 2 (PCYT2) is involved in the metabolism of the cell, assisting in the creation of molecules essential for the functioning of nerves.
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Specifiche
| Breeds | |
|---|---|
| Gene | |
| Organ | |
| specimen | Tampone, Sangue in EDTA, Sangue in Eparina, Seme, Tessuto |
| Mode of Inheritance | |
| Chromosome | |
| Year Published |
Informazioni generali
The enzyme Phosphate Cytidylyltransferase 2 (PCYT2) is involved in the metabolism of the cell, assisting in the creation of molecules essential for the functioning of nerves. In the Saarloos Wolfdog, a recessive mutation to the gene for PCYT2 is known to result in degenerating eyesight, loss of coordination and other neurological defects.
Caratteristiche cliniche
The first sign of PCYT2 deficiency in affected dogs is a progressive loss of vision consistent with Progressive Retinal Atrophy (PRA), which becomes apparent between 1 and 4 years of age. Subsequently, the disease can result in neurological and muscular symptoms like ataxia (loss of coordination), abnormal gait, weakness of the hind limbs, tremors, epileptic seizures and behavioural abnormalities such as sudden aggression towards the owner.
Informazioni aggiuntive
Riferimenti
Pubmed ID: 38277988
Omia ID: 2728