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

Oxysterol-binding protein-related protein 10

The OSBPL10 gene encodes an intracellular steroid receptor. An association of genetic variations with familial combined hyperlipidemia is observed.

Genetests:

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

Related Diseases:

Combined familial hyperlipidemia with VLDL overproduction
APOE
GCKR
OSBPL10
USF1

References:

1.

Lehto M et al. (2001) The OSBP-related protein family in humans.

external link
2.

Jaworski CJ et al. (2001) A family of 12 human genes containing oxysterol-binding domains.

external link
3.

Maeda K et al. (2013) Interactome map uncovers phosphatidylserine transport by oxysterol-binding proteins.

external link
4.

Perttilä J et al. (2009) OSBPL10, a novel candidate gene for high triglyceride trait in dyslipidemic Finnish subjects, regulates cellular lipid metabolism.

external link
5.

NCBI article

NCBI 114884 external link
6.

OMIM.ORG article

Omim 606738 external link
Update: Aug. 14, 2020
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