FEM1A

Gene Information
 
Gene Symbol
FEM1A
 
Aliases
EPRAP
 
Entrez Gene ID
 
Gene Name
Fem-1 homolog a (C. elegans)
 
Chromosomal Location
19p13.3
 
HGNC ID
 
Summary
 
GeneCards ID
 
UniGene
 
RefSeq mRNA
  e!Ensembl
Gene
Transcript  
Protein

Gene Ontology (GO)

GO ID Ontology Definition 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
 
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
 
Refseq Proteins
 
UniProt
 
InterPro
 
Pfam
Pfam Accession Pfam ID
PF00023 Ank Ankyrin repeat
PF12796 Ank_2 Ankyrin repeats (3 copies)
 
OMIM

Associated Diseases

Diseases References
Hyperandrogenism 22678803, 16390781
Infertility 16390781
Insulin resistance 22678803
Polycystic ovary syndrome (PCOS) 16390781
   
References
 
Primary:

[Polymorphisms of FEM1A gene in patients with polycystic ovary syndrome].

Lin Yuan, Sun Yan
Department of Obstetrics and Gynecology, Fujian Medical University Teaching Hospital, Fujian Maternity and Child Health Hospital, Fuzhou, Fujian 350001, P. R. China. alice-96@163.com
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2012 Jun;29(3):338-42. doi:
 
Supporting Literature:
PubMed ID Associated gene/s Associated condition Genetic Mutation Diagnostic Criteria Association with PCOS Ethnicity Conclusion
 
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. 
 
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. 
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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