MITD1

Chr 2

microtubule interacting and trafficking domain containing 1

NCBI Gene: 129531 ENSG00000158411 UniProt: Q8WV92

The protein regulates ESCRT-III complex activity and is required for efficient abscission during cytokinesis, the final step of cell division where daughter cells separate. Mutations cause mitochondrial DNA depletion syndrome, which typically presents in infancy or early childhood with multisystem involvement including liver dysfunction, muscle weakness, and neurological deterioration, following autosomal recessive inheritance. The gene shows minimal constraint against loss-of-function variants, consistent with recessive disease manifestation.

ResearchSummary from RefSeq, UniProt

Abscission, the separation of daughter cells at the end of cytokinesis, is effected by endosomal sorting complexes required for transport III (ESCRT-III). The protein encoded by this gene functions as a homodimer, with the N-termini binding to a subset of ESCRT-III subunits and the C-termini binding to membranes. The encoded protein regulates ESCRT-III activity and is required for proper cytokinesis. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2016]

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

1.08

LOEUF

Mechanism· predicted

Some data sources returned errors (1)

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