2024年12月25日 · PIGK (Phosphatidylinositol Glycan Anchor Biosynthesis Class K) is a Protein Coding gene. Diseases associated with PIGK include Neurodevelopmental Disorder With Or Without Hypotonia, Seizures, And Cerebellar Atrophy and Epilepsy.

GPI转酰胺酶复合物是GPI锚定蛋白生物合成第二步的关键催化酶，由五个亚基组成，包括 PIGK、PIGU、PIGT、PIGS和GPAA1。 糖基磷脂酰肌醇（GPI）是一类由甘露糖、葡萄糖胺、磷酸乙醇胺和肌醇磷脂组成的复杂糖脂。 它可以与一些蛋白质的羧基端共价相连，将其锚定在细胞质膜外小叶上发挥生物学功能。

The GPI-anchor is a glycolipid found on many blood cells and serves to anchor proteins to the cell surface. This protein is a member of the multisubunit enzyme GPI transamidase and is thought to be its enzymatic component.

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。 该蛋白质是多亚基酶 GPI 转酰胺酶的成员，被认为是其酶促成分。 GPI 转酰胺酶通过催化完全组装的 GPI 单位向蛋白质的转移，介导 GPI 在内质网中的锚定。 [RefSeq 提供，2008 年 7 月] This gene encodes a member of the cysteine protease family C13 that is involved in glycosylphosphatidylinositol (GPI)-anchor biosynthesis.

2024年11月9日 · To examine the function of PIGK in cerebellar pathogenesis, we first investigated the expression of PIGK in the mouse brain and found that it was highly expressed in Purkinje cells of the ...

PIGK gene, encoding a key component of glycosylphosphatidylinositol (GPI) transamidase, was recently reported to be associated with inherited GPI deficiency disorders (IGDs). However, little is known about the specific downstream effects of PIGK on neurodevelopment due to the rarity of the disease a …

2025年2月8日 · Microsatellite polymorphism located immediately upstream of the phosphatidylinositol glycan, class K gene (PIGK) affects its expression, which correlates with tyrosinase activity in human melanocytes.

2025年2月8日 · Our results demonstrate, for the first time, a link between the SNP 1048575 and low PIGK expression in CRC/HCC patients and also suggest a possible association between altered PIGK expression and disease susceptibility. GPI8 and PIG-T form a functionally important intermolecular disulfide bridge

2024年11月9日 · Biallelic mutations in PIGK cause GPI biosynthesis defect 22 (GPIBD22), characterized with developmental delay, hypotonia, and cerebellar atrophy. The understanding of the underlying causes is limited due to the lack of suitable disease models. To address this gap, we generated a mouse model with PI …

2020年4月4日 · PIGK encodes a component of the GPI transamidase complex, which attaches the GPI anchor to proteins. Clinical features found in most individuals include global developmental delay and/or intellectual disability, hypotonia, cerebellar ataxia, cerebellar atrophy, and facial dysmorphisms.