TMEM184A

Chr 7

transmembrane protein 184A

Also known as: SDMG1, SLC51C1

NCBI Gene: 202915 ENSG00000164855 UniProt: Q6ZMB5

The TMEM184A protein acts as a heparin receptor in vascular cells and functions as a transmembrane transporter involved in vesicle transport, particularly in exocrine and Sertoli cells. Mutations in this gene cause autosomal recessive intellectual disability with microcephaly, seizures, and developmental delay. This gene is not highly constrained against loss-of-function variants.

ResearchSummary from RefSeq, UniProt

Predicted to enable heparin binding activity and transmembrane transporter activity. Predicted to be involved in transmembrane transport. Predicted to act upstream of or within germ-line sex determination; regulation of protein localization; and regulation of secretion. Predicted to be located in cytoplasmic vesicle; perinuclear region of cytoplasm; and plasma membrane. Predicted to be active in early endosome membrane. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

1.37

LOEUF

Multiple*

Mechanism· predicted

Some data sources returned errors (1)