MIGA1

Chr 1

mitoguardin 1

Also known as: FAM73A

NCBI Gene: 374986 ENSG00000180488 UniProt: Q8NAN2 OMIM: 616773

The protein regulates mitochondrial fusion by forming dimers at the mitochondrial outer membrane and facilitating PLD6/MitoPLD dimer formation, potentially through phospholipid metabolism regulation. Mutations cause autosomal recessive hypomyelinating leukodystrophy-15, characterized by developmental delay, intellectual disability, and progressive white matter abnormalities affecting the central nervous system. This gene shows moderate constraint against loss-of-function variants (LOEUF 0.728).

OMIM ResearchSummary from RefSeq, UniProt

Enables protein heterodimerization activity and protein homodimerization activity. Involved in mitochondrial fusion. Located in mitochondrion and plasma membrane. [provided by Alliance of Genome Resources, Jul 2025]

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.73

LOEUF

GOF

Mechanism· predicted