2024年12月25日 · Complete information for PIGH gene (Protein Coding), Phosphatidylinositol Glycan Anchor Biosynthesis Class H, including: function, proteins, disorders, pathways, orthologs, and expression.

Phosphatidylinositol N-acetylglucosaminyltransferase subunit H is an enzyme that in humans is encoded by the PIGH gene. [5][6] The PIGH gene is located on the reverse strand of chromosome 14 in humans, and is neighbored by TMEM229B.

Results from a study on gene expression variability markers in early-stage human embryos shows that PIGH is a putative expression variability marker for the 3-day, 8-cell embryo stage. This gene encodes an endoplasmic reticulum associated protein that is involved in glycosylphosphatidylinositol (GPI)-anchor biosynthesis.

HGNC Approved Gene Symbol: PIGH. Cytogenetic location: 14q24.1 Genomic coordinates (GRCh38) : 14:67,589,306-67,600,301 (from NCBI) The PIGH gene encodes an enzyme involved in the biosynthesis of glycosylphosphatidylinositol (GPI) anchor (Kamitani et al., 1993).

2023年11月23日 · Loss of the GPI-anchor in B-lymphoblastic leukemia by epigenetic downregulation of PIGH expression. A PIGH mutation leading to GPI deficiency is associated with developmental delay and autism. A homozygous variant disrupting the PIGH start-codon is associated with developmental delay, epilepsy, and microcephaly.

PIGH deficiency is a newly described and rare disorder associated with developmental delay, seizures and behavioral difficulties. Herein, we report three new unrelated families with two different bi-allelic PIGH variants, including one new variant p.

GPI锚是一种存在于许多血细胞上的糖脂，用于将蛋白质锚定在细胞表面。 这个基因编码的蛋白质是GPI N-乙酰葡萄糖胺（GlcNAc）转移酶的亚单位，该转移酶将GlcNAc转移到内质网胞质侧的磷脂酰肌醇（PI）上。 [RefSeq，2008年7月提供] Dir./Indir. Complete sequencing and characterization of 21,243 full-length human cDNAs. Kinase-selective enrichment enables quantitative phosphoproteomics of the kinome across the cell cycle.

Gene target information for PIGH - phosphatidylinositol glycan anchor biosynthesis class H (human). Find diseases associated with this biological target and compounds tested against it in bioassay experiments.

该基因编码参与糖基磷脂酰肌醇 (GPI) -锚生物合成的内质网相关蛋白。 GPI 锚是一种在许多血细胞上发现的糖脂，用于将蛋白质锚定到细胞表面。 该基因编码的蛋白质是 GPI N-乙酰葡糖胺基 (GlcNAc) 转移酶的一个亚基，可将 GlcNAc 转移到内质网胞质侧的磷脂酰肌醇 (PI) 。 [RefSeq 提供，2008 年 7 月] This gene encodes an endoplasmic reticulum associated protein that is involved in glycosylphosphatidylinositol (GPI)-anchor biosynthesis.

Predicted to be involved in GPI anchor biosynthetic process. Predicted to be integral component of membrane. Predicted to be part of glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex. Orthologous to human PIGH (phosphatidylinositol glycan anchor biosynthesis class H). [provided by Alliance of Genome Resources, Apr 2022]