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XB-GENEPAGE-970068
mpc1 mitochondrial pyruvate carrier 1
Monarch Ortholog Phenotypes
These phenotypes are associated with this gene with a has phenotype relation via Monarch.
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Human (18 sources): Encephalopathy, Epicanthus, Generalized hypotonia, Global developmental delay, Hepatomegaly, Hypoglycemia, Hypotonia, Increased circulating lactate concentration, Increased serum pyruvate, Lactic acidosis, [+] |
Mouse (21 sources): abnormal Muller cell morphology, abnormal cone electrophysiology, abnormal gluconeogenesis, abnormal mitochondrial physiology, abnormal photoreceptor inner segment morphology, abnormal photoreceptor outer segment disc membrane morphology, abnormal retina photoreceptor morphology, abnormal rod electrophysiology, behavior/neurological phenotype, decreased circulating glucose level, [+] |
View all ortholog results at Monarch |