METTL27

Chr 7

methyltransferase like 27

Also known as: WBSCR27

NCBI Gene: 155368 ENSG00000165171 UniProt: Q8N6F8

The protein belongs to the ubiE/COQ5 methyltransferase family and is involved in methylation reactions. METTL27 is deleted as part of the contiguous gene deletion at 7q11.22-q11.23 that causes Williams syndrome, a multisystem developmental disorder. The gene shows tolerance to loss-of-function variants in the general population (pLI 0.06, LOEUF 1.02), suggesting its deletion may contribute to but not solely cause the Williams syndrome phenotype.

ResearchSummary from RefSeq

This gene encodes a protein belonging to ubiE/COQ5 methyltransferase family. The gene is deleted in Williams syndrome, a multisystem developmental disorder caused by the deletion of contiguous genes at 7q11.22-q11.23. [provided by RefSeq, Jul 2008]

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

1.02

LOEUF

Mechanism· predicted

Some data sources returned errors (1)

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