| torsin family 1, member A (torsin A) | OKDB#: 4742 |
| Symbols: | TOR1A | Species: | human | ||
| Synonyms: | DQ2, DYT1,DQ2, DYT1, | Locus: | 9q34 in Homo sapiens |
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| General Comment |
prosalusin
NCBI Summary: The protein encoded by this gene is a member of the AAA family of adenosine triphosphatases (ATPases), is related to the Clp protease/heat shock family and is expressed prominently in the substantia nigra pars compacta. Mutations in this gene result in the autosomal dominant disorder, torsion dystonia 1. [provided by RefSeq, Jul 2008] |
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| Comment | Salusins, newly identified regulators of hemodynamics and mitogenesis, increase in polycystic ovarian syndrome. Celik O et al. In the current study, we aimed to investigate whether serum salusin a and ?levels are different in PCOS subjects. Fifty women with PCOS and 50 healthy, age- and body mass index matched controls were included to the prospective cross-sectional study. All subjects underwent venous blood drawing on the early follicular phase after an overnight fasting. Serum salusin a and ?levels were measured with EIA, and ELISA respectively. The relationships between serum salusin levels and anthropometric and metabolic parameters were also assessed. Plasma salusin a and ?levels were higher in women with PCOS compared to control group. Serum salusin a level correlated positively with salusin ?and fasting serum insulin levels. The serum salusin ?levels were correlated positively with HOMA-IR, TG, LDL-C, LH, FSH, and total testosterone levels. Our results indicate that salusins, newly identified regulators of hemodynamics and mitogenesis, are increased within the serum of women with PCOS. | ||||
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| Mutations | 0 mutations | ||||
| Genomic Region | show genomic region | ||||
| Phenotypes and GWAS | show phenotypes and GWAS | ||||
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| created: | Aug. 1, 2012, 1:52 p.m. | by: |
hsueh email:
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| last update: | July 11, 2013, 1:47 p.m. | by: | hsueh email: |
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