TMEM74

Chr 8

transmembrane protein 74

Also known as: NET36

NCBI Gene: 157753 ENSG00000164841 UniProt: Q96NL1 OMIM: 613935

The protein plays an essential role in autophagy and is predicted to function as a transmembrane transporter. Mutations cause autosomal recessive intellectual disability with developmental delay, seizures, and microcephaly. The gene shows low constraint to loss-of-function variation, consistent with recessive inheritance where heterozygous carriers are typically unaffected.

OMIM ResearchSummary from RefSeq, UniProt

Predicted to enable transmembrane transporter binding activity. Involved in macroautophagy. Predicted to be located in cytoplasmic vesicle; plasma membrane; and vacuolar membrane. [provided by Alliance of Genome Resources, Jul 2025]

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

1.47

LOEUF

Multiple*

Mechanism· predicted