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A screening approach with sequence specific baits for transcripts of genes of the GPI pathway identified pathogenic noncoding mutations in PGAP3 subtype of hyperphosphatasia with mental retardation syndrome. Besides five missense mutations, an intronic mutation was found causing an aberrant splice product and a mutation in the 3'UTR that is associated with substantially lower mRNA levels.
Impairment of PGAP3 causes a subtype of hyperphosphatasia with intellectual disabilities, a congenital disorder of glycosylation that is also referred to as Mabry syndrome.
Data show that glycosylphosphatidylinositol-anchored proteins (GPI (show GNPDA1 Proteins)-APs (show SH2B2 Proteins)) are secreted into the medium by cells overexpressing PGAP3.
These findings revealed the association of PERLD1 as a novel asthma candidate gene and reinforced the involvement of genes on the 17q12-21 chromosomal region in the etiology of asthma.
MGC9753, consisting of eight exons, clustered with PPP1R1B (show PPP1R1B Proteins), STARD3 (show STARD3 Proteins), TCAP (show TCAP Proteins), PNMT (show PNMT Proteins), ERBB2 (show ERBB2 Proteins), MGC14832 and GRB7 (show GRB7 Proteins) genes within the 120-kb region of chromosome 17q12; PPP1R1B (show PPP1R1B Proteins), STARD3 (show STARD3 Proteins), MGC9753, ERBB2 (show ERBB2 Proteins) and GRB7 (show GRB7 Proteins) genes are co-amplified in several cases of gastric cancer
Oncogenomic recombination hotspot around the PPP1R1B (show PPP1R1B Proteins)-STARD3 (show STARD3 Proteins)-TCAP (show TCAP Proteins)-PNMT (show PNMT Proteins)-PERLD1-ERBB2 (show ERBB2 Proteins)-C17orf37 (show C17orf37 Proteins)-GRB7 (show GRB7 Proteins) amplicon at human chromosome 17q12 is closely linked to evolutionary recombination hotspot around the GSDML (show GSDMB Proteins)-GSDM (show GSDMA Proteins) locus.
the response of T cells was enhanced in Pgap3 knockout mice in both in vitro and in vivo studies, including alloreactive response, antigen-specific immune response, and experimental autoimmune encephalomyelitis.
Involved in the lipid remodeling steps of GPI-anchor maturation. Lipid remodeling steps consist in the generation of 2 saturated fatty chains at the sn-2 position of GPI-anchors proteins. Required for phospholipase A2 activity that removes an acyl-chain at the sn-2 position of GPI-anchors during the remodeling of GPI (By similarity).
post-GPI attachment to proteins factor 3
, post-GPI attachment to proteins 3
, COS16 homolog
, PER1-like domain-containing protein 1
, gene coamplified with ERBB2 protein
, per1-like domain containing 1
, post-GPI-attachment to proteins 3