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Family with sequence similarity 78 member A (FAM78A)
- Target
- FAM78A
- Molecular classification
- Other (uncharacterized protein family; no evidence for classification as receptor, enzyme, transporter, etc.)
01
Overview
Family with sequence similarity 78 member A (FAM78A) is a protein-coding gene that remains largely uncharacterized in terms of molecular function. It is implicated in pathways involving apoptosis and cell growth arrest (for example, after UV-A exposure), immune modulation in cancer (such as regulation of programmed death ligand 1 in colon cancer), and is differentially expressed in placental dysfunction and ovarian folliculogenesis. FAM78A also displays altered methylation patterns associated with aggressive tumor phenotypes in renal carcinoma and melanoma, suggesting a possible role as an epigenetic biomarker, though its protein function and mechanism are not currently elucidated. To date, there is no evidence that FAM78A serves as a direct receptor, enzyme, or known drug target, nor as the subject of pharmacological intervention[1][4].
- Other names
- C9orf59Protein FAM78AFLJ00024FA78AQ5JUQ0 (UniProt accession)
02
Biological functions
Cell growth arrestProgrammed cell death (apoptosis)Immune response modulationChemotaxisCellular and vascular developmentDistinguishing ovarian follicle cell lineage
03
Disease associations
Cancer (colon cancer, melanoma, renal cell carcinoma—primarily inferred from differential methylation and gene expression)Placental dysfunction (implicated in maternal hyperglycemia context)Emery-Dreifuss muscular dystrophy 3, autosomal recessive
04
Biomarkers
Abnormal methylation status (hypermethylation of promoter CpG island) in renal cell carcinoma and melanoma, suggesting utility as an epigenetic biomarker for tumor aggression and malignancyUpregulated gene expression in certain ovarian follicle cells as a potential cell marker
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