RecName: Full=Post-GPI attachment to proteins factor 2; AltName: Full= - Protein

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Articles about the PGAP2 gene

A post glycosylphosphatidylinositol (GPI) attachment to proteins, type 2 (PGAP2) variant identified in Mabry syndrome index cases: Molecular genetics of the prototypical inherited GPI disorder. [Eur J Med Genet. 2020]
A post glycosylphosphatidylinositol (GPI) attachment to proteins, type 2 (PGAP2) variant identified in Mabry syndrome index cases: Molecular genetics of the prototypical inherited GPI disorder.
Thompson MD, Knaus AA, Barshop BA, Caliebe A, Muhle H, Nguyen TTM, Baratang NV, Kinoshita T, Percy ME, Campeau PM, et al. Eur J Med Genet. 2020 Apr; 63(4):103822. Epub 2019 Dec 2.
A Rare Variant in PGAP2 Causes Autosomal Recessive Hyperphosphatasia with Mental Retardation Syndrome, with a Mild Phenotype in Heterozygous Carriers. [Biomed Res Int. 2017]
A Rare Variant in PGAP2 Causes Autosomal Recessive Hyperphosphatasia with Mental Retardation Syndrome, with a Mild Phenotype in Heterozygous Carriers.
Perez Y, Wormser O, Sadaka Y, Birk R, Narkis G, Birk OS. Biomed Res Int. 2017; 2017:3470234. Epub 2017 Oct 8.
Congenital disorder of glycosylphosphatidylinositol (GPI)-anchor biosynthesis--The phenotype of two patients with novel mutations in the PIGN and PGAP2 genes. [Eur J Paediatr Neurol. 2016]
Congenital disorder of glycosylphosphatidylinositol (GPI)-anchor biosynthesis--The phenotype of two patients with novel mutations in the PIGN and PGAP2 genes.
Jezela-Stanek A, Ciara E, Piekutowska-Abramczuk D, Trubicka J, Jurkiewicz E, Rokicki D, Mierzewska H, Spychalska J, Uhrynowska M, Szwarc-Bronikowska M, et al. Eur J Paediatr Neurol. 2016 May; 20(3):462-73. Epub 2016 Feb 4.

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Reference sequence information

RefSeq genomic sequence
See the genomic reference sequence for the PGAP2 gene (NG_051812.1).
RefSeq protein isoforms
See 78 reference sequence protein isoforms for the PGAP2 gene.

More about the PGAP2 gene

The protein encoded by this gene plays a role in the maturation of glycosylphosphatidylinositol (GPI) anchors on GPI-anchored proteins. Muta...
Also Known As: CWH43-N, FRAG1, HPMRS3,...

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Q9UHJ9 [Domain Mapping of Disease Mut...]
Q9UHJ9
Domain Mapping of Disease Mutations
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reagents [ExactAntigen/Labome]
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RecName: Full=Post-GPI attachment to proteins factor 2; AltName: Full=FGF receptor-activating protein 1

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Articles about the PGAP2 gene

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