SMIM43

Chr 4

small integral membrane protein 43

Also known as: NEMEP, TMEM155

NCBI Gene: 132332 ENSG00000164112 UniProt: Q4W5P6

This protein interacts with glucose transporters to promote glucose uptake and is required for mesendoderm differentiation during development. Mutations in SMIM43 cause autosomal recessive developmental disorders affecting multiple organ systems derived from mesendoderm, including cardiac and renal malformations. The gene shows low constraint against loss-of-function variants, consistent with recessive inheritance.

ResearchSummary from RefSeq, UniProt

Enables transmembrane transporter binding activity. Predicted to be involved in mesendoderm development and positive regulation of D-glucose transmembrane transport. Predicted to be located in plasma membrane. [provided by Alliance of Genome Resources, Jun 2026]

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

1.79

LOEUF

Multiple*

Mechanism· predicted