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HPMR

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Neurofibromatosis, Type I OKDB#: 2611
 Symbols: NF1 Species: human
 Synonyms: NEUROFIBROMATOSIS|VON RECKLINGHAUSEN DISEASE|NEUROFIBROMIN, INCLUDED|NEUROFIBROMATOSIS, TYPE I, WITH LEUKEMIA, INCLUDED|NEUROFIBROMATOSIS, TYPE I, WITH GLIOMA, INCLUDED  Locus: 2p22-p21, 17q11.2 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: Mutations linked to neurofibromatosis type 1 led to the identification of NF1. NF1 encodes the protein neurofibromin, which appears to be a negative regulator of the ras signal transduction pathway. In addition to type 1 neurofibromatosis, mutations in NF1 can also lead to juvenile myelomonocytic leukemia. Alternatively spliced NF1 mRNA transcripts have been isolated, although their functions, if any, remain unclear.
General function
Comment
Cellular localization Cytoplasmic
Comment
Ovarian function
Comment Herr D, et al reported that chorionic gonadotropin regulates the transcript level of VHL, p53, and HIF-2alpha in human granulosa lutein cells. The ovarian corpus luteum plays a critical role in reproduction being the primary source of circulating progesterone. After ovulation the corpus luteum is build by avascular granulosa lutein cells through rapid vascularization regulated by gonadotropic hormones. The present study was performed to investigate whether this process might be influenced by the human chorionic gonadotropin (hCG)-dependent expression of different tumor suppressor genes and hypoxia dependent transcription factors. RNA was isolated from cultured granulosa lutein cells, transcribed into cDNA, and the transcript level of following genes were determined: RB-1, VHL, NF-1, NF-2, Wt-1, p53, APC, and hypoxia inducible factor-1 (HIF-1), -2, and -3alpha. Additionally, the influence of hCG on the expression of VHL, p53, and HIf2alpha were investigated. We demonstrate that in human granulosa lutein cells the tumor suppressor genes RB-1, VHL, NF-1, NF-2, Wt-1, p53, and APC and the hypoxia dependent transcription factors HIF-1alpha, -2alpha, and -3alpha are expressed. In addition, we showed that hCG regulates the expression of p53, VHL, and HIF-2alpha. Our results indicate that hCG may determine the growth and development of the corpus luteum by mediating hypoxic and apoptotic pathways in human granulosa lutein cells.
Expression regulated by
Comment
Ovarian localization Luteal cells
Comment
Follicle stages
Comment
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: Oct. 4, 2004, 7:33 p.m. by: hsueh   email:
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last update: Oct. 4, 2004, 7:34 p.m. by: system    email:



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