SAR1B Chromosome 5
Secretion associated Ras related GTPase 1B
Upload your DNA to see your personal genotypes for variants in SAR1B.
What This Gene Does
The protein encoded by this gene is a small GTPase that acts as a homodimer. The encoded protein is activated by the guanine nucleotide exchange factor PREB and is involved in protein transport from the endoplasmic reticulum to the Golgi. This protein is part of the COPII coat complex. Defects in this gene are a cause of chylomicron retention disease (CMRD), also known as Anderson disease (ANDD). Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Mar 2010]
Gene Info
Gene Group
"ARF GTPase family|Coat protein complex II"
Locus Type
gene with protein product
Location
5q31.1
Ensembl
ENSG00000152700
Associated Conditions (3)
Inborn genetic diseases
Chylomicron retention disease
SAR1B-related disorder
Key Variants
RS368843590
Conflicting classifications of pathogenicity
Health Risk
RS369515030
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS763796886
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS2484119129
Likely pathogenic
Chylomicron retention disease, Chylomicron retention disease
Health Risk
RS121917846
Pathogenic
Chylomicron retention disease, Chylomicron retention disease
Health Risk
RS137853125
Pathogenic
Chylomicron retention disease, Chylomicron retention disease
Health Risk
RS137853126
Pathogenic
Chylomicron retention disease, Chylomicron retention disease
Health Risk
RS1442471258
Pathogenic
Health Risk
RS1580645070
Pathogenic
Chylomicron retention disease, Chylomicron retention disease
Health Risk
RS1580645999
Pathogenic
Chylomicron retention disease, Chylomicron retention disease
Health Risk
RS1580648526
Pathogenic
Health Risk
RS1580653772
Pathogenic
Chylomicron retention disease, Chylomicron retention disease
Health Risk
All Variants (20)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS368843590 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS369515030 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS763796886 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS2484119129 | Health Risk | Likely pathogenic | Chylomicron retention disease, Chylomicron retention disease |
| RS121917846 | Health Risk | Pathogenic | Chylomicron retention disease, Chylomicron retention disease |
| RS137853125 | Health Risk | Pathogenic | Chylomicron retention disease, Chylomicron retention disease |
| RS137853126 | Health Risk | Pathogenic | Chylomicron retention disease, Chylomicron retention disease |
| RS1442471258 | Health Risk | Pathogenic | — |
| RS1580645070 | Health Risk | Pathogenic | Chylomicron retention disease, Chylomicron retention disease |
| RS1580645999 | Health Risk | Pathogenic | Chylomicron retention disease, Chylomicron retention disease |
| RS1580648526 | Health Risk | Pathogenic | — |
| RS1580653772 | Health Risk | Pathogenic | Chylomicron retention disease, Chylomicron retention disease |
| RS1765140550 | Health Risk | Pathogenic | — |
| RS1765180391 | Health Risk | Pathogenic | Inborn genetic diseases, Chylomicron retention disease, Inborn genetic diseases |
| RS2484143490 | Health Risk | Pathogenic | — |
| RS373135041 | Health Risk | Pathogenic | — |
| RS755928019 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS28942109 | Health Risk | Pathogenic/Likely pathogenic | Chylomicron retention disease, Chylomicron retention disease |
| RS28942110 | Health Risk | Pathogenic/Likely pathogenic | Chylomicron retention disease, SAR1B-related disorder, Chylomicron retention disease |
| RS61749633 | Health Risk | Pathogenic/Likely pathogenic | Chylomicron retention disease, Chylomicron retention disease |