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Ovarian Kaleidoscope Database (OKdb)

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cullin 4A OKDB#: 4524
 Symbols: CUL4A Species: human
 Synonyms: XPE, DDBA, XAP1, XPCE, XPE-BF, UV-DDB1,  Locus: 11q12-q13 in Homo sapiens


For retrieval of Nucleotide and Amino Acid sequences please go to: OMIM Entrez Gene
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link to BioGPS
General Comment NCBI Summary: This gene encodes the large subunit of DNA damage-binding protein which is a heterodimer composed of a large and a small subunit. This protein functions in nucleotide-excision repair. Its defective activity causes the repair defect in the patients with xeroderma pigmentosum complementation group E (XPE). However, it remains for mutation analysis to demonstrate whether the defect in XPE patients is in this gene or the gene encoding the small subunit. In addition, Best vitelliform mascular dystrophy is mapped to the same region as this gene on 11q, but no sequence alternations of this gene are demonstrated in Best disease patients. [provided by RefSeq]
General function , Epigenetic modifications
Comment
Cellular localization
Comment
Ovarian function
Comment
Expression regulated by
Comment
Ovarian localization Oocyte
Comment CRL4 complex regulates mammalian oocyte survival and reprogramming by activation of TET proteins. Yu C 2013 et al. The duration of a woman's reproductive period is determined by the size and persistence of a dormant oocyte pool. Specific oocyte genes are essential for follicle maintenance and female fertility. The mechanisms that regulate the expression of these genes are poorly understood. We found that a cullin-ring finger ligase-4 (CRL4) complex was crucial in this process. Oocyte-specific deletion of the CRL4 linker protein DDB1 or its substrate adaptor VPRBP (also known as DCAF1) caused rapid oocyte loss, premature ovarian insufficiency, and silencing of fertility maintaining genes. CRL4(VPRBP) activates the TET methylcytosine dioxygenases, which are involved in female germ cell development and zygote genome reprogramming. Hence, CRL4(VPRBP) ubiquitin ligase is a guardian of female reproductive life in germ cells and a maternal reprogramming factor after fertilization. /////////////////////////
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: Aug. 3, 2011, 10:45 p.m. by: hsueh   email:
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last update: Jan. 15, 2014, 11:04 a.m. by: hsueh    email:



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