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Gene Symbol |
HAPLN1 |
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Aliases |
CRT1, CRTL1 |
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Entrez Gene ID |
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Gene Name |
Hyaluronan and proteoglycan link protein 1 |
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Chromosomal Location |
5q14.3 |
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HGNC ID |
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e!Ensembl
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Protein Information |
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Protein Name |
Hyaluronan and proteoglycan link protein 1, Cartilage link protein, cartilage-link protein, cartilage-linking protein 1, proteoglycan link protein |
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Function |
Stabilizes the aggregates of proteoglycan monomers with hyaluronic acid in the extracellular cartilage matrix |
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UniProt |
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Interactions |
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STRING |
MINT |
IntAct |
ENSP00000299767 |
P14625 |
P14625 |
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View interactions
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Associated Diseases
Disease group | Disease Name | References |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
Limb Deformities |
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Endocrine System Diseases |
Dwarfism |
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PCOS |
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Immune System Diseases |
Rheumatoid Arthritis |
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Neoplasms |
Colorectal Cancer |
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References |
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Kenigsberg Shlomit, Bentov Yaakov, Chalifa-Caspi Vered, Potashnik Gad, Ofir Rivka, Birk Ohad S |
The Morris Kahn Laboratory of Human Genetics, National Institute for Biotechnology in the Negev, Ben-Gurion University, Beer-Sheva, Israel. |
Mol Hum Reprod. 2009 Feb;15(2):89-103. doi: 10.1093/molehr/gan082. Epub 2009 Jan |
Abstract
The aim of this work was to study gene expression patterns of cultured cumulus cells from lean and overweight-obese polycystic ovary syndrome (PCOS) patients using genome-wide oligonucleotide microarray. The study included 25 patients undergoing in vitro fertilization and intra-cytoplasmic sperm injection: 12 diagnosed with PCOS and 13 matching controls. Each of the groups was subdivided into lean (body mass index (BMI) < 24) and overweight (BMI > 27) subgroups. The following comparisons of gene expression data were made: lean PCOS versus lean controls, lean PCOS versus overweight PCOS, all PCOS versus all controls, overweight PCOS versus overweight controls, overweight controls versus lean controls and all overweight versus all lean. The largest number of differentially expressed genes (DEGs), with fold change (FC) |
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| © 2019, Biomedical Informatics Centre, NIRRH |
National Institute for Research in Reproductive Health, Jehangir Merwanji Street, Parel, Mumbai-400 012
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