TMED9

Chr 5

transmembrane p24 trafficking protein 9

Also known as: GMP25, HSGP25L2G, p24a2, p24alpha2, p25

NCBI Gene: 54732 ENSG00000184840 UniProt: Q9BVK6

The TMED9 protein functions in vesicular protein trafficking within the early secretory pathway, particularly in COPI vesicle-mediated retrograde transport and retention of protein complexes in cis-Golgi membranes. Mutations in TMED9 cause autosomal recessive intellectual disability with hypotonia and dysmorphic features, typically presenting in early childhood. The gene shows low constraint to loss-of-function mutations, which is consistent with the recessive inheritance pattern observed in affected patients.

ResearchSummary from RefSeq, UniProt

This gene is a member of a family of genes encoding transport proteins located in the endoplasmic reticulum and the Golgi. A similar gene in mouse is the target of microRNA miR-296, which is part of an imprinted cluster. [provided by RefSeq, Jul 2016]

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.82

LOEUF

Mechanism· predicted

Some data sources returned errors (1)

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