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Gene Information   Gene Symbol FEM1A   Aliases EPRAP   Entrez Gene ID 55527   Gene Name Fem-1 homolog A   Chromosomal Location 19p13.3   HGNC ID HGNC:16934   e!Ensembl Gene ENSG00000141965 Transcript ENST00000269856   Protein ENSP00000269856 Gene Ontology (GO) Show/Hide all(2 ) GO ID Ontology Function Evidence Reference GO:0050728 Biological process Negative regulation of inflammatory response IDA 16424369 GO:0031867 Molecular function EP4 subtype prostaglandin E2 receptor binding IPI 16424369 Protein Information   Protein Name Protein fem-1 homolog A, FEM1-alpha, prostaglandin E receptor 4-associated protein   Function Probable component of an E3 ubiquitin-protein ligase complex, in which it may act as a substrate recognition subunit (By similarity). May participate in antiinflammatory signaling via its interaction with PTGER4.   UniProt Q9BSK4   Pfam Pfam Accession Pfam ID PF12796 Ank_2 Pathways   Reactome     Neddylation Interactions   STRING MINT IntAct ENSP00000217971 O00264 O00264     View interactions       Associated Diseases Show/Hide all(4 ) Disease group Disease Name References Cardiovascular Diseases Congestive Cardiomyopathy 29321553 Endocrine System Diseases PCOS 22678803, 18757445, 16390781 Musculoskeletal Diseases Necrosis 14960149 Neoplasms Rhabdomyoma 16254458, 21393897 References     Show/Hide all(3) PubMed ID Associated gene/s Associated condition Genetic Mutation Diagnostic Criteria Association with PCOS Ethnicity Conclusion 16390781    Infertility, hyperandrogenism and insulin resistance,PCOS  Polymorphism-FEM1A*H500Y    Direct  Caucasian women  In conclusion, FEM1A should be considered a candidate gene for PCOS, and more extensive analysis of FEM1A, both coding and regulatory sequences, is warranted in patients and families with PCOS.  22678803    Hyperandrogenism,insulin resistance  rs12460989 and rs8111933 loci of FEM1A gene    Related  Chinese- 120 PCOS and 155 controls  Particular genotypes of the rs12460989 and rs8111933 loci of FEM1A gene are associated with PCOS in Chinese Han and may be a potential risk factor of hyperandrogenism. Polymorphisms of the rs8111933 locus of FEM1A gene may be a risk factor of IR.  18757445  FEM1B,FEM1C  Insulin-related traits    Elevation of circulating androgen levels, either testosterone (T) or nonsex hormone-binding globulin-bound testosterone (uT) associated with chronic oligomenorrhea (6 menses per year) or amenorrhea  Related    This study presents evidence suggesting a role for FEM1A and FEM1B in the pathogenesis of PCOS.

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