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PGAP1
Alias
Bst1; ISPD3024; MRT42; SPG67
Associated disorders
The PGAP1 gene is associated with autosomal recessive intellectual disability (MedGen UID: 777028). Additionally, the PGA1 gene has preliminary evidence supporting a correlation with autosomal recessive hereditary spastic paraplegia (PMID: 24482476).
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PGAP1
Order this gene as a single gene test.
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Invitae tests that include this gene:
Invitae Hereditary Spastic Paraplegia Comprehensive Panel up to 64 genes
Gene function
The PGAP1 gene encodes a protein localized to the endoplasmic reticulum membrane that plays a role in the maturation of glycosylphosphatidylinositol (GPI), by a chemical modification that allows proteins to be anchored to the cell surface. Disruption of GPI maturation and addition to membrane-bound proteins causes a wide-range of cellular defects, though PGAP1 function appears to be specifically important to normal neurological development in humans.
References
- Tanaka, S, et al. Inositol deacylation of glycosylphosphatidylinositol-anchored proteins is mediated by mammalian PGAP1 and yeast Bst1p. J. Biol. Chem. 2004; 279(14):14256-63. PMID: 14734546
- Ueda, Y, et al. PGAP1 knock-out mice show otocephaly and male infertility. J. Biol. Chem. 2007; 282(42):30373-80. PMID: 17711852
- Novarino, G, et al. Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders. Science. 2014; 343(6170):506-11. PMID: 24482476
- Kinoshita, T, Fujita, M. Biosynthesis of GPI-anchored proteins: special emphasis on GPI lipid remodeling. J. Lipid Res. 2016; 57(1):6-24. PMID: 26563290
Assay
Assay and technical information
Invitae is a College of American Pathologists (CAP)-accredited and Clinical Laboratory Improvement Amendments (CLIA)-certified clinical diagnostic laboratory performing full-gene sequencing and deletion/duplication analysis using next-generation sequencing technology (NGS).
Our sequence analysis covers clinically important regions of each gene, including coding exons, +/- 10 base pairs of adjacent intronic sequence in the transcript listed below. In addition, analysis covers the select non-coding variants specifically defined in the table below. Any variants that fall outside these regions are not analyzed. Any specific limitations in the analysis of these genes are also listed in the table below.
Our analysis detects most intragenic deletions and duplications at single exon resolution. However, in rare situations, single-exon copy number events may not be analyzed due to inherent sequence properties or isolated reduction in data quality. If you are requesting the detection of a specific single-exon copy number variation, please contact Client Services before placing your order.
| Gene | Transcript reference | Sequencing analysis | Deletion/Duplication analysis |
|---|---|---|---|
| PGAP1 | NM_024989.3 |
Resources
Patient resources
Patient guide: Genetic testing simplifiedReferences
- Tanaka, S, et al. Inositol deacylation of glycosylphosphatidylinositol-anchored proteins is mediated by mammalian PGAP1 and yeast Bst1p. J. Biol. Chem. 2004; 279(14):14256-63. PMID: 14734546
- Ueda, Y, et al. PGAP1 knock-out mice show otocephaly and male infertility. J. Biol. Chem. 2007; 282(42):30373-80. PMID: 17711852
- Novarino, G, et al. Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders. Science. 2014; 343(6170):506-11. PMID: 24482476
- Kinoshita, T, Fujita, M. Biosynthesis of GPI-anchored proteins: special emphasis on GPI lipid remodeling. J. Lipid Res. 2016; 57(1):6-24. PMID: 26563290
