RUBCNL

Chr 13

rubicon like autophagy enhancer

Also known as: C13orf18, KIAA0226L, PACER

NCBI Gene: 80183 ENSG00000102445 UniProt: Q9H714

The protein regulates autophagy by promoting autophagosome maturation and facilitating the fusion of autophagosomes with lysosomes, and also regulates lipid and glycogen homeostasis. Mutations cause autosomal recessive neurodevelopmental disorder with epilepsy, cataracts, and digestive abnormalities. The gene shows very low constraint against loss-of-function variants, consistent with recessive inheritance patterns.

ResearchSummary from RefSeq, UniProt

This gene encodes a cysteine-rich protein that contains a putative zinc-RING and/or ribbon domain. The encoded protein is related to Run domain Beclin-1-interacting and cysteine-rich domain-containing protein, which plays a role in endocytic trafficking and autophagy. In cervical cancer cell lines, this gene is expressed at low levels and may function as a tumor suppressor. Promoter hypermethylation of this gene is observed in cervical cancer cell lines and tissue derived from human patients. [provided by RefSeq, Mar 2017]

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

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LOEUF

Mechanism· predicted

Some data sources returned errors (2)

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