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CPT2

carnitine palmitoyltransferase 2

gene with protein productOMIM: 6006504 заболевания
GeneCards ↗Open Targets ↗NCBI Gene ↗OMIM ↗

Ассоциированные заболевания

Герминативная мутация (причина)3
Carnitine palmitoyl transferase II deficiency, myopathic formORPHA:228302
→
Carnitine palmitoyl transferase II deficiency, severe infantile formORPHA:228305
→
Carnitine palmitoyl transferase II deficiency, neonatal formORPHA:228308
→
Ген-кандидат1
Acute necrotizing encephalopathy of childhoodORPHA:263524
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Данные: Orphadata (CC-BY-4.0)