TMEM187

Chr X

transmembrane protein 187

Also known as: CXorf12, DXS9878E, ITBA1

NCBI Gene: 8269 ENSG00000177854 UniProt: Q14656 OMIM: 300059

This gene encodes a multi-pass membrane protein with unknown specific function. Mutations cause autosomal recessive developmental and epileptic encephalopathy with early infantile onset, characterized by severe intellectual disability, epilepsy, and developmental delays. The gene shows low constraint against loss-of-function variants, consistent with the recessive inheritance pattern observed in affected individuals.

OMIM ResearchSummary from RefSeq

This gene consists of two exons and encodes a multi-pass membrane protein. An alternatively spliced transcript variant encoding the same protein has been found, but its biological validity is not determined. [provided by RefSeq, May 2010]

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

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P/LP missense

1.59

LOEUF

Mechanism· predicted