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Gene Symbol |
CPZ |
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Aliases |
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Entrez Gene ID |
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Gene Name |
Carboxypeptidase Z |
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Chromosomal Location |
4p16.1 |
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HGNC ID |
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Summary |
This gene encodes a member of the metallocarboxypeptidase family. This enzyme displays carboxypeptidase activity towards substrates with basic C-terminal residues. It is most active at neutral pH and is inhibited by active site-directed inhibitors of metallocarboxypeptidases. Alternative splicing in the coding region results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
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e!Ensembl
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| Protein Information |
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Protein Name |
Carboxypeptidase Z, VEZT/CPZ fusion, epididymis secretory sperm binding protein, metallocarboxypeptidase Z |
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Function |
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Cleaves substrates with C-terminal arginine residues. Probably modulates the Wnt signaling pathway, by cleaving some undefined protein. May play a role in cleavage during prohormone processing. |
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UniProt |
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Interactions |
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| STRING |
MINT |
IntAct |
| ENSP00000379762 |
Q9UBP4 |
Q9UBP4 |
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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 |
| Neuroblastoma |
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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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