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PEX6

peroxisomal biogenesis factor 6

gene with protein productOMIM: 6014985 заболеваний
GeneCards ↗Open Targets ↗NCBI Gene ↗OMIM ↗

Ассоциированные заболевания

Герминативная мутация (причина)4
Zellweger syndromeORPHA:912
→
Neonatal adrenoleukodystrophyORPHA:44
→
Infantile Refsum diseaseORPHA:772
→
Autosomal recessive spinocerebellar ataxia-blindness-deafness syndromeORPHA:95433
→
Disease-causing germline mutation(s) (loss of function) in1
Deafness-enamel hypoplasia-nail defects syndromeORPHA:3220
→
Данные: Orphadata (CC-BY-4.0)