Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
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SAR1B gene

The SAR1B gene encodes a protein, GTP-binding protein SAR1b, that is involved in intracellular protein transport from endoplasmatic reticulum to the Golgi apparatus and therefore has an impact on protein secretion. Mutations cause autosomal recessive Chylomicron retention disease.

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:

Chylomicron retention disease
SAR1B
Chylomicronemia
ABCA1
ABCG5
APOA5
APOC2
APOE
Chylomicron retention disease
SAR1B
GPIHBP1
LCAT
LIPA
LIPC
LMF1
LPL
SAR1B

References:

1.

Schekman R et al. (1996) Coat proteins and vesicle budding.

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2.

Aguglia U et al. (2000) Vitamin E deficiency due to chylomicron retention disease in Marinesco-Sjögren syndrome.

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3.

Takai Y et al. (2001) Small GTP-binding proteins.

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4.

He H et al. (2002) Identification and characterization of nine novel human small GTPases showing variable expressions in liver cancer tissues.

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5.

Jones B et al. (2003) Mutations in a Sar1 GTPase of COPII vesicles are associated with lipid absorption disorders.

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6.

Annesi G et al. (2007) SIL1 and SARA2 mutations in Marinesco-Sjögren and chylomicron retention diseases.

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7.

Charcosset M et al. (2008) Anderson or chylomicron retention disease: molecular impact of five mutations in the SAR1B gene on the structure and the functionality of Sar1b protein.

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Update: Aug. 14, 2020
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