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Target intelligence / Profile preview
Family with sequence similarity 247 member A (FAM247A)
- Target
- FAM247A
- Molecular classification
- Other (small transmembrane protein of unknown function)
01
Overview
FAM247A is not a recognized human protein or gene; this appears to be a misspelling, with the correct entity being FAM241A. FAM241A encodes a small transmembrane protein characterized by the conserved domain DUF4605. It is widely expressed across tissues and is evolutionarily conserved from primitive multicellular organisms through vertebrates. Its function remains unknown, although previous studies localize it to the endoplasmic reticulum and suggest it may interact with membrane-bound organelles or components of the oligosaccharyl transferase complex. Knockout of FAM241A in mouse models does not produce an observable phenotype, and there is no evidence of a role in human disease or as a therapeutic target.
02
Mechanism of action
None known. No drugs or therapeutic compounds target this protein
03
Biological functions
Other (Not well characterized; previous studies suggest localization to the endoplasmic reticulum and possible involvement in protein trafficking, but no definitive function is established)
04
Disease associations
Other (No established disease association. A rare heterozygous variant in the closely related FAM241B was identified in a patient with developmental delay, but the pathogenic role is unclear and may be benign)
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