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Gene Symbol |
ADRB3 |
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Aliases |
BETA3AR |
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Entrez Gene ID |
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Gene Name |
Adrenoceptor beta 3 |
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Chromosomal Location |
8p12 |
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HGNC ID |
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Summary |
The protein encoded by this gene belongs to the family of beta adrenergic receptors, which mediate catecholamine-induced activation of adenylate cyclase through the action of G proteins. This receptor is located mainly in the adipose tissue and is involved in the regulation of lipolysis and thermogenesis. (provided by RefSeq, Feb 2009)
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UniGene |
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RefSeq mRNA |
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e!Ensembl
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Protein Information |
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Protein Name |
Beta-3 adrenergic receptor |
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Function |
Beta-adrenergic receptors mediate the catecholamine-induced activation of adenylate cyclase through the action of G proteins. Beta-3 is involved in the regulation of lipolysis and thermogenesis |
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UniProt |
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PDB |
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InterPro |
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Pfam |
Pfam Accession |
Pfam ID |
PF00001 |
7tm_1 |
7 transmembrane receptor (rhodopsin family) |
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KEGG |
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OMIM |
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Phenotype MIM ID |
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Associated Diseases
Diseases |
References |
Hyperandrogenism |
11287026 |
Polycystic ovary syndrome (PCOS) |
21756250 |
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References |
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Primary:
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Witchel S F, Smith R, Tomboc M, Aston C E |
Division of Pediatric Endocrinology, Children's Hospital of Pittsburgh, University of Pittsburgh, Pennsylvania, Pittsburgh 15213, USA. witches@chplink.chp.edu |
Fertil Steril. 2001 Apr;75(4):724-30. |
Abstract
OBJECTIVE: To identify genetic markers associated with premature pubarche in children and hyperandrogenism in adolescent girls. DESIGN: Association study. SETTING: Academic research environment. PATIENT(S): Forty children with premature pubarche (PP), 29 adolescent girls with hyperandrogenism (HA), and 15 healthy control women. INTERVENTION(S): None. MAIN OUTCOME MEASURE(S): Genetic variations at five loci selected because of known associations with hyperandrogenism, insulin resistance, hyperinsulinemia, or obesity. RESULT(S): Heterozygosity for CYP21 mutations was identified in 14 of 40 (35%) PP, 8 of 29 (28%) HA, and 1 of 30 (3%) controls. Heterozygosity for HSD3B2 variants was identified in 3 of 40 (7.5%) PP, 5 of 29 (17%) HA, and 0/15 controls. Among the PP, 11 of 80 (14%), 5 of 80 (6%), and 7 of 80 (9%) alleles showed the IRS-1, GRL, and ADRB3 variants, respectively. Among the HA, 5 of 58 (8.6%), 3 of 58 (5%), and 6 of 58 (10%) alleles showed the IRS-1, GRL, and ADRB3 variants, respectively. Among the control participants, variant allele frequency was 1 of 30 (3.3%) for IRS-1, 2 of 30 (6.6%) for GRL, and 2 of 30 (6.6%) for ADRB3. CONCLUSION(S): Our findings suggest that the development of PP and HA can be associated with the occurrence of multiple sequence variants at five susceptibility loci, especially steroidogenic enzyme genes. This approach offers a novel paradigm to investigate and identify the genetic factors relevant to polycystic ovary syndrome. |
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Supporting Literature:
PubMed ID |
Associated gene/s |
Associated condition |
Genetic Mutation |
Diagnostic Criteria |
Association with PCOS |
Ethnicity |
Conclusion |
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CYP21 mutations,HSD3B2 variants,IRS-1, GRL |
Hyperandrogenism |
ADRB3 variants |
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Related
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Our findings suggest that the development of PP and HA can be associated with the occurrence of multiple sequence variants at five susceptibility loci, especially steroidogenic enzyme genes. |
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