MARS1 — methionyl-tRNA synthetase 1 | MEDLIB

gene with protein productOMIM: 1565603 заболевания

GeneCards ↗Open Targets ↗NCBI Gene ↗OMIM ↗

Ассоциированные заболевания

Disease-causing germline mutation(s) (loss of function) in2

Autosomal dominant Charcot-Marie-Tooth disease type 2UORPHA:397735

Severe early-onset pulmonary alveolar proteinosis due to MARS deficiencyORPHA:440427

Герминативная мутация (причина)1

Autosomal recessive spastic paraplegia type 70ORPHA:401835

gene with protein productOMIM: 1565603 заболевания

GeneCards ↗Open Targets ↗NCBI Gene ↗OMIM ↗

Ассоциированные заболевания

Disease-causing germline mutation(s) (loss of function) in2

Autosomal dominant Charcot-Marie-Tooth disease type 2UORPHA:397735

Severe early-onset pulmonary alveolar proteinosis due to MARS deficiencyORPHA:440427

Герминативная мутация (причина)1

Autosomal recessive spastic paraplegia type 70ORPHA:401835