Target intelligence / Profile preview

Transmembrane protein 248 (TMEM248)

Target
TMEM248
Molecular classification
Other (Transmembrane protein, not assigned to classic classes like receptor, enzyme, or transporter)
01

Overview

Transmembrane protein 248 (TMEM248) is a **protein-coding gene** located on chromosome 7q11.21 in humans. It codes for a membrane protein predicted to localize primarily at the plasma membrane and has multiple transmembrane domains. TMEM248 is broadly and ubiquitously expressed across human tissues, with low tissue specificity. Its putative function is related to vesicular trafficking and protein binding, but experimental data supporting a precise molecular or cellular role are lacking. The protein is highly conserved across vertebrates and invertebrates. Disease association studies suggest increased expression in various cancers and a possible involvement in neurological, metabolic, and developmental disorders, but it is not established as a therapeutic target, receptor, enzyme, nor any classical druggable protein family. There are currently no approved drugs targeting TMEM248, no specific mechanism of action described for its modulation, and no established use as a biomarker or known safety liabilities.

Other names
C7orf42FLJ10099FLJ13090UPF0458 protein C7orf42
02

Biological functions

Possible involvement in vesicular traffickingprotein bindingno established function with experimental evidence
03

Disease associations

Potentially involved in multiple diseases including cancer (colon, breast, lung, ovarian, brain, renal cancers)Parkinson diseasecholesteryl ester storage diseasemultiple intestinal atresiaglycogen storage diseaseAfrican iron overloadprogressive familial intrahepatic cholestasis type 1oculocerebrodental syndromeShwachman-Diamond syndromeWarburg Micro syndrome 1

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