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HPMR

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KH-type splicing regulatory protein OKDB#: 4772
 Symbols: KHSRP Species: human
 Synonyms: FBP2, KSRP, FUBP2,  Locus: 19p13.3 in Homo sapiens


For retrieval of Nucleotide and Amino Acid sequences please go to: OMIM Entrez Gene
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General Comment NCBI Summary: The KHSRP gene encodes a multifunctional RNA-binding protein implicated in a variety of cellular processes, including transcription, alternative pre-mRNA splicing, and mRNA localization (Min et al., 1997 [PubMed 9136930]; Gherzi et al., 2004 [PubMed 15175153]).[supplied by OMIM, Apr 2010]
General function
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Cellular localization
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Ovarian function
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Expression regulated by
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Ovarian localization Cumulus
Comment Impact of maternal aging on the molecular signature of human cumulus cells. McReynolds S et al. OBJECTIVE: To investigate the impact of maternal aging on the molecular signature of cumulus cells. DESIGN: Experimental study. SETTING: Research laboratory. PATIENT(S): Patients, young fertile oocyte donors (n = 40) and infertile women of advanced maternal age (40-45 years; n = 48), donated, with Institutional Review Board consent, cumulus cells during routine infertility treatment. INTERVENTION(S): None. MAIN OUTCOME MEASURE(S): Proteomic and gene expression profiles of cumulus cells. RESULT(S): Proteomic analysis identified a total of 1,423 cumulus cell proteins. Statistical analysis revealed 110 (7.7%) proteins to be differentially expressed in relation to female aging (>1.5-fold change). Pathway annotation revealed significant involvement in metabolism (ACAT2, HSD17B4, ALDH9A1, MVK, CYP11A1, and FDFT1), oxidative phosphorylation (OP; NDUFA1, UQCRC1, MT-ATP6, ATP5I, and MT-ATP8), and post-transcriptional mechanisms (KHSRP, SFPQ, DDX46, SNRPF, ADAR, NHPL1, and U2AF2) relative to advanced maternal age. Gene expression analysis also revealed altered profiles in cumulus cells from women in their early to mid-40s. CONCLUSION(S): This novel study reveals that the cumulus cell molecular signature, at both the gene and protein level, is impacted by advanced maternal aging. A compromised follicular environment is evident with altered energy metabolism and post-transcriptional processes.
Follicle stages
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Phenotypes
Mutations 0 mutations
Genomic Region show genomic region
Phenotypes and GWAS show phenotypes and GWAS
Links
OMIM (Online Mendelian Inheritance in Man: an excellent source of general gene description and genetic information.)
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created: Sept. 19, 2012, 1:52 p.m. by: hsueh   email:
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last update: Sept. 19, 2012, 1:52 p.m. by: hsueh    email:



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