Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

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.

[^]
2.

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

[^]
3.

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

[^]
4.

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

[^]
5.

NCBI article

NCBI 114884 [^]
6.

OMIM.ORG article

Omim 606738 [^]
Update: April 29, 2019