RMC1

Chr 18

regulator of MON1-CCZ1

Also known as: C18orf8, HsT2591, MIC1, Mic-1, WDR98

NCBI Gene: 29919 ENSG00000141452 UniProt: Q96DM3 OMIM: 620267

This protein functions as a component of the CCZ1-MON1 RAB7A guanine exchange factor complex, acting as a positive regulator necessary for endosomal and autophagic flux and efficient RAB7A localization. Mutations cause autosomal recessive neurodegeneration with brain iron accumulation, typically presenting in childhood with progressive movement disorders and cognitive decline. The gene is highly constrained against loss-of-function variants, indicating that functional copies are critical for normal cellular function.

OMIM ResearchSummary from RefSeq, UniProt

This gene encodes a colon cancer associated protein. [provided by RefSeq, Jan 2013]

OMIM ResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.30

LOEUF· LoF intol.

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Mechanism