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transthyretin OKDB#: 4171
 Symbols: TTR Species: human
 Synonyms: CTS, CTS1, PALB, TBPA, HEL111, HsT2651  Locus: 18q12.1 in Homo sapiens


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General Comment NCBI Summary: This gene encodes transthyretin, one of the three prealbumins including alpha-1-antitrypsin, transthyretin and orosomucoid. Transthyretin is a carrier protein; it transports thyroid hormones in the plasma and cerebrospinal fluid, and also transports retinol (vitamin A) in the plasma. The protein consists of a tetramer of identical subunits. More than 80 different mutations in this gene have been reported; most mutations are related to amyloid deposition, affecting predominantly peripheral nerve and/or the heart, and a small portion of the gene mutations is non-amyloidogenic. The diseases caused by mutations include amyloidotic polyneuropathy, euthyroid hyperthyroxinaemia, amyloidotic vitreous opacities, cardiomyopathy, oculoleptomeningeal amyloidosis, meningocerebrovascular amyloidosis, carpal tunnel syndrome, etc. [provided by RefSeq, Jan 2009]
General function Extracellular binding protein
Comment
Cellular localization Secreted
Comment Low free plasma levels of retinol-binding protein 4 in insulin-resistant subjects with polycystic ovary syndrome. Diamanti-Kandarakis E et al. (2009) It has been shown in animals and in humans that retinol-binding protein 4 (RBP4) production from adipose tissue leads to generalized insulin resistance (IR). A more sensitive marker of circulating RBP4 is free plasma RBP4 expressed by RBP4 to transthyretin (TTR) ratio, since in circulation RBP4 is bound to TTR. To investigate RBP4 levels in insulin-resistant women with polycystic ovary syndrome (PCOS) and to estimate free plasma RBP4 expressed by RBP4/TTR ratio. Thirty-five PCOS subjects were compared with 45 controls matched for age and body mass index (BMI). In each subject, fasting values of glucose, insulin, gonadotropins, estradiol, androgens, C-reactive protein (CRP), RBP4, and TTR were determined. PCOS subjects in comparison to controls were more insulin-resistant [homeostasis model assessment for IR (HOMA-IR): 2.6+/-0.3 vs 1.9+/-0.1, p=0.043], and presented lower RBP4 levels (28.3+/-1.1 vs 32.4+/-1.2 microg/ml, p=0.021) and RBP4/TTR ratio (0.26+/-0.01 vs 0.31+/-0.01, p=0.0014). When RBP4 and RBP4/TTR values where stratified according to BMI status (obese, overweight, and lean subjects), it was noticed that both RBP4 and RBP4/TTR values in lean PCOS were significantly lower than in controls (RBP4: 25.0+/-5.5 vs 34.1+/-9.0 microg/ml, p=0.0063, RBP4/TTR: 0.25+/-0.3 vs 0.35+/-0.1, p=0.016). No correlation was observed between RBP4 and RBP4/TTR with any hormonal or metabolic parameter including BMI. RBP4 and free plasma RBP4 expressed as RBP4/TTR ratio are statistically and significantly lower in insulin-resistant PCOS subjects in comparison to controls. Therefore, our findings do not confirm a link between IR, neither with RBP4 nor with free plasma RBP4 levels. The significance of these findings remains to be elucidated, since RBP4 might prove to have different actions, like other adipokines, from humans and rodents.//////////////////
Ovarian function
Comment
Expression regulated by
Comment
Ovarian localization
Comment Identification of new proteins in follicular fluid of mature human follicles. Anahory T et al. Proteins present in human follicular fluid (HFF) have been poorly characterized to date. The purpose of our study was to analyse the protein content and identify new proteins originating from fluid of mature human follicles. A total of six females from infertile couples referred for in vitro fertilization (IVF) were stimulated and 44 follicular fluid samples from mature follicles yielding an oocyte were collected 34-36 h after human chorionic gonadotropin administration. HFF samples were processed for high-resolution two-dimensional polyacrylamide gel electrophoresis (2-D PAGE). Comparative analysis of the 2-D gels revealed up to 600 spots, of which four were selected because of variations in their expression level. Using direct sequencing procedures (Edman degradation) or matrix assisted laser desorption/ionization-mass spectrometry (MALDI-MS), these four spots were identified as three new proteins: thioredoxin peroxydase 1 (TDPX1), transthyretin (TTR) and retinol-binding protein (RBP). The proteins identified here may emerge as potential candidates for specific functions during folliculogenesis and may prove useful as biomedical markers for follicle and/or oocyte maturation.
Follicle stages
Comment
Phenotypes PCO (polycystic ovarian syndrome)
Mutations 0 mutations
Genomic Region show genomic region
Phenotypes and GWAS show phenotypes and GWAS
Links
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created: Jan. 20, 2010, 4:28 p.m. by: hsueh   email:
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last update: Jan. 12, 2016, 3:24 p.m. by: hsueh    email:



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