Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
Moldiag Diseases Genes Support Contact

PPARG cofactor 1-beta

The PPARGC1B encodes a protein that is involved in PPARG based transcription control. Mutations can contribute to obesity in an autosomal domminant fashion.

Genetests:

Clinic Method Carrier testing
Turnaround 5 days
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25 days
Specimen type genomic DNA
Research Method Genomic sequencing of the entire coding region
Turnaround 25 days
Specimen type genomic DNA

Related Diseases:

Susceptibility to obesity
ADRB2
ADRB3
CARTPT
ENPP1
GHRL
PPARGC1B
SDC3
UCP1

References:

1.

Lin J et al. (2005) Hyperlipidemic effects of dietary saturated fats mediated through PGC-1beta coactivation of SREBP.

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2.

Sahin E et al. (2011) Telomere dysfunction induces metabolic and mitochondrial compromise.

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3.

Andersen G et al. (2005) Evidence of an association between genetic variation of the coactivator PGC-1beta and obesity.

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4.

Lin J et al. (2002) Peroxisome proliferator-activated receptor gamma coactivator 1beta (PGC-1beta ), a novel PGC-1-related transcription coactivator associated with host cell factor.

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5.

Kressler D et al. (2002) The PGC-1-related protein PERC is a selective coactivator of estrogen receptor alpha.

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6.

Hentschke M et al. (2002) PGC-1 and PERC, coactivators of the estrogen receptor-related receptor gamma.

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7.

Kamei Y et al. (2003) PPARgamma coactivator 1beta/ERR ligand 1 is an ERR protein ligand, whose expression induces a high-energy expenditure and antagonizes obesity.

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8.

Ling C et al. (2004) Multiple environmental and genetic factors influence skeletal muscle PGC-1alpha and PGC-1beta gene expression in twins.

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9.

Lai L et al. (2008) Transcriptional coactivators PGC-1alpha and PGC-lbeta control overlapping programs required for perinatal maturation of the heart.

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10.

Ishii KA et al. (2009) Coordination of PGC-1beta and iron uptake in mitochondrial biogenesis and osteoclast activation.

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11.

Srivastava S et al. (2009) PGC-1alpha/beta induced expression partially compensates for respiratory chain defects in cells from patients with mitochondrial disorders.

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12.

NCBI article

NCBI 133522 external link
13.

OMIM.ORG article

Omim 608886 external link
14.

Wikipedia article

Wikipedia EN (PPARGC1B) external link
Update: Aug. 14, 2020
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