VTA1

Chr 6

vesicle trafficking 1

Also known as: 6orf55, C6orf55, DRG-1, HSPC228, LIP5, My012, SBP1

NCBI Gene: 51534 ENSG00000009844 UniProt: Q9NP79

VTA1 encodes a protein that functions in the endosomal multivesicular body pathway, specifically facilitating the sorting and degradation of membrane proteins including growth factor receptors. Mutations in VTA1 cause neurodevelopmental disorders with autosomal recessive inheritance. The gene shows tolerance to loss-of-function variants, suggesting that complete loss of protein function may be required for disease manifestation.

ResearchSummary from RefSeq, UniProt

C6ORF55 encodes a protein involved in trafficking of the multivesicular body, an endosomal compartment involved in sorting membrane proteins for degradation in lysosomes (Ward et al., 2005 [PubMed 15644320]).[supplied by OMIM, Mar 2008]

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

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P/LP missense

0.90

LOEUF

Mechanism· predicted

Some data sources returned errors (1)

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