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Gene Symbol |
ADAM12 |
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Aliases |
ADAM12-OT1, CAR10, MCMP, MCMPMltna, MLTN, MLTNA |
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Entrez Gene ID |
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Gene Name |
ADAM metallopeptidase domain 12 |
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Chromosomal Location |
10q26.2 |
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HGNC ID |
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Summary |
This gene encodes a member of a family of proteins that are structurally related to snake venom disintegrins and have been implicated in a variety of biological processes involving cell-cell and cell-matrix interactions, including fertilization, muscle development, and neurogenesis. Expression of this gene has been used as a maternal serum marker for pre-natal development. Alternative splicing results in multiple transcript variants encoding different isoforms. Shorter isoforms are secreted, while longer isoforms are membrane-bound form. [provided by RefSeq, Jan 2014]
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RefSeq DNA |
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RefSeq mRNA |
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e!Ensembl
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| Protein Information |
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Protein Name |
Disintegrin and metalloproteinase domain-containing protein 12, meltrin-alpha, metalloprotease-disintegrin 12 transmembrane |
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Function |
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Involved in skeletal muscle regeneration, specifically at the onset of cell fusion. Also involved in macrophage-derived giant cells (MGC) and osteoclast formation from mononuclear precursors (By similarity). |
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UniProt |
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Interactions |
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| STRING |
MINT |
IntAct |
| ENSP00000234816 |
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View interactions
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Associated Diseases
| Disease group | Disease Name | References |
| Endocrine System Diseases |
| PCOS |
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| Neoplasms |
| Skin Cancer |
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| Psychiatric/Brain disorders |
| Attention Deficit Disorder |
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| Schizophrenia |
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References |
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| Jansen Erik, Laven Joop S E, Dommerholt Henri B R, Polman Jan, van Rijt Cindy, van den Hurk Caroline, Westland Jolanda, Mosselman Sietse, Fauser Bart C J M |
| Global Business Inteligence Center, NV Organon, PO Box 20, 5340 BH Oss, The Netherlands. erik.jansen@organon.com |
| Mol Endocrinol. 2004 Dec;18(12):3050-63. doi: 10.1210/me.2004-0074. Epub 2004 Aug |
Abstract
Polycystic ovary syndrome (PCOS) represents the most common cause of anovulatory infertility and affects 5-10% of women of reproductive age. The etiology of PCOS is still unknown. The current study is the first to describe consistent differences in gene expression profiles in human ovaries comparing PCOS patients vs. healthy normoovulatory individuals. The microarray analysis of PCOS vs. normal ovaries identifies dysregulated expression of genes encoding components of several biological pathways or systems such as Wnt signaling, extracellular matrix components, and immunological factors. Resulting data may provide novel clues for ovarian dysfunction in PCOS. Intriguingly, the gene expression profiles of ovaries from (long-term) androgen-treated female-to-male transsexuals (TSX) show considerable overlap with PCOS. This observation provides supportive evidence that androgens play a key role in the pathogenesis of PCOS. Presented data may contribute to a better understanding of dysregulated pathways in PCOS, which might ultimately reveal novel leads for therapeutic intervention. |
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| © 2019, Biomedical Informatics Centre, NIRRH |
National Institute for Research in Reproductive Health, Jehangir Merwanji Street, Parel, Mumbai-400 012
Tel: 91-22-24192104, Fax No: 91-22-24139412
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