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Hsueh lab

HPMR

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176557

Melanoma Antigen, Family D, 2 OKDB#: 3917
 Symbols: MAGED2 Species: human
 Synonyms: 11B6, BCG1, HCA10, JCL-1, MAGED, MAGE-D2, MGC8386,MAGED  Locus: Xp11.2 in Homo sapiens
HPMR


For retrieval of Nucleotide and Amino Acid sequences please go to: OMIM Entrez Gene
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General Comment

NCBI Summary: This gene is a member of the MAGED gene family. While the MAGEA and MAGEB genes are silent in normal tissues with the exception of testis and placenta, the MAGED genes are expressed ubiquitously. The MAGED genes are clustered on chromosome Xp11. This gene is located in Xp11.2, a hot spot for X-linked mental retardation (XLMR). Multiple alternatively spliced transcript variants have been found for this gene, however, the full length nature of some variants has not been defined. [provided by RefSeq]
General function Receptor
Comment
Cellular localization Plasma membrane
Comment
Ovarian function
Comment
Expression regulated by
Comment
Ovarian localization
Comment Genomewide discovery and classification of candidate ovarian fertility genes in the mouse. Gallardo TD et al. Female infertility syndromes are among the most prevalent chronic health disorders in women, but their genetic basis remains unknown because of uncertainty regarding the number and identity of ovarian factors controlling the assembly, preservation, and maturation of ovarian follicles. To systematically discover ovarian fertility genes en masse, we employed a mouse model (Foxo3) in which follicles are assembled normally but then undergo synchronous activation. We developed a microarray-based approach for the systematic discovery of tissue-specific genes and, by applying it to Foxo3 ovaries and other samples, defined a surprisingly large set of ovarian factors (n = 348, approximately 1% of the mouse genome). This set included the vast majority of known ovarian factors, 44% of which when mutated produce female sterility phenotypes, but most were novel. Comparative profiling of other tissues, including microdissected oocytes and somatic cells, revealed distinct gene classes and provided new insights into oogenesis and ovarian function, demonstrating the utility of our approach for tissue-specific gene discovery. This study will thus facilitate comprehensive analyses of follicle development, ovarian function, and female infertility. This is an ovary -enriched gene.
Follicle stages
Comment
Phenotypes
Mutations 0 mutations
SNPs
D E M O
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OMIM (Online Mendelian Inheritance in Man: an excellent source of general gene description and genetic information.)
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created: Jan. 28, 2009, 10:14 a.m. by: hsueh   email:
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last update: Jan. 28, 2009, 10:16 a.m. by: hsueh    email:



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