Ask about this productRelated genes to: Pigw antibody
- Gene:
- PIGW NIH gene
- Name:
- phosphatidylinositol glycan anchor biosynthesis class W
- Previous symbol:
- -
- Synonyms:
- Gwt1, FLJ37433
- Chromosome:
- 17q12
- Locus Type:
- gene with protein product
- Date approved:
- 2003-10-14
- Date modifiied:
- 2016-10-05
Related products to: Pigw antibody
Related articles to: Pigw antibody
- Glycosylphosphatidylinositol (GPI) serves as an anchor protein for human cells, and genetic defects in this protein can lead to inherited GPI deficiency (IGD). Intellectual disability, distinctive facial features, epilepsy, hyperphosphatasia, and multiple organ anomalies characterize IGD, with severity varying based on the affected genes. A 53-day-old male, born to nonconsanguineous parents, presented with poor feeding and fever. The patient exhibited unique facial characteristics, hyperphosphatasia, and reduced complement levels. During his 2.5-month admission, he exhibited recurrent fever and infection. Whole-genome sequencing revealed compound heterozygous variants in the PIGW gene, c.[173T>C];[617_620del], p.[Leu58Pro];[Val206Glyfs*3]. Flow cytometry indicated a marked decrease in CD16 expression on granulocytes, leading to the diagnosis of IGD in the patient. This patient exhibited persistent low complement levels (CH50, C3, and C4) alongside elevated immune complexes, which may reflect complement activation secondary to infections. Transient complement abnormalities of this kind may occasionally accompany recurrent infections in patients with GPI biosynthesis defect 11. This case broadens the phenotypic spectrum of PIGW-related IGD and highlights the importance of further research to clarify the relationship between infection, complement activation, and GPI biosynthesis. - Source: PubMed
Publication date: 2026/07/21
Okawa YukaTsunogai ToshikiSaijo NaoyaImagawa EriTakayama JunKikuchi AtsuoWada YasuyukiMurakami YoshikoOishi Kimihiko - Hyperphosphatasia with mental retardation syndrome (HPMRS) is a rare genetic disorder characterized by developmental delay/intellectual disability, seizures, dysmorphic features, and diverse congenital anomalies with elevated alkaline phosphatase. It is an autosomal recessive disease caused by homozygous or compound heterozygous mutations in the PIGV , PIGY , PIGO , PGAP2 , PIGW , and PGAP3 genes, which are involved in glycosylphosphatidylinositol biosynthesis. Mutations in the PGAP3 gene cause HPMRS type 4. - Source: PubMed
Publication date: 2026/01/31
Beşen ŞeydaÖzkale YaseminSangün ÖzlemErol İlknur - Inherited glycosylphosphatidylinositol (GPI) deficiencies are a heterogeneous group of inherited disorders of glycosylation, caused by mutations in genes involved in GPI-anchored proteins (GPI-AP) biosynthesis. PIGW is a gene known to be involved in the early steps of the GPI-anchor biosynthesis, as well as functional studies for most patients. Biallelic mutations in PIGW have been previously linked to hyperphosphatasia with mental retardation syndrome 5, also known as glycosylphosphatidylinositol biosynthesis defect 11 (GPIBD11). - Source: PubMed
Publication date: 2025/03/25
Rabouhi NazimSalian SmrithiBenkerroum HindYoshida TakeshiUddin HumayraNguyen Thi Tuyet MaiFujita TakakoHirose ShinichiKosaki KenjiroLefebvre MathildeBourgon NicolasThauvin-Robinet ChristelKamalova AelitaShakhirova AlmaziyaGill HarinderLee Hyun KyungMenke Leonie AKinoshita TarohMurakami YoshikoCampeau Philippe M - We present a case of a fetus from a Chinese family. Ultrasound examination during the second trimester revealed increased fetal abdominal circumference, enlarged liver, tent-like mouth, frequent tongue movement, micro-fist-like hands in fixed positions, hydronephrosis with bilateral ectopic ureteral openings, scrotal echoes visible in the external genitalia, no significant penile echo, and polyhydramnios. To determine the genetic cause of this fetus, we performed a prenatal diagnosis. - Source: PubMed
Publication date: 2025/04/03
Chen XinChen JingQiang KunkunLuo Hong - Inherited glycosylphosphatidylinositol deficiency disorders (IGDs) are a group of rare recessive genetic conditions characterised by developmental delays and an early onset epilepsy caused by disruptions in the glycosylphosphatidylinositol-anchored biosynthetic pathway. In this study, we identified eight variants in phosphatidyl inositol glycan (PIG) genes from four IGDs families through whole-exome sequencing (WES). The variants included one in PIGA, two in PIGW and five in PIGN, with five being novel variants. Functional analysis confirmed the pathogenicity of the PIGN (c.1117-12C>G) and PIGW (c.1112delT and c.659T>G) variants. According to ACMG/AMP guidelines, four novel variants were classified as pathogenic or likely pathogenic. Families I and III successfully delivered healthy children after prenatal diagnosis. This study identified the pathogenic causes of four IGD pedigrees, expanded the mutation spectrum of PIG genes and provided a theoretical basis for reproductive interventions in such families. - Source: PubMed
Publication date: 2025/02/09
Zhao Zi-XiZhou Jing-LinWang QiPeng SongminPeng YaoWang Yu-RongHu LiangAiyitahong RejimaPeng LinGu FengLu Guang-XiuLin GeChen SongTan Yue-QiuDu JuanHe Wen-Bin