PMM2 -congenital disorder of glycosylation (PMM2 -CDG, also known as congenital disorder of glycosylation type Ia) is an inherited condition that affects many parts of the body. The type and severity of problems associated with PMM2 -CDG vary widely among affected individuals, sometimes even among members of the same family.

Signs and symptoms are typically evident in infancy and can include hypotonia, inverted nipples, an abnormal distribution of fat, strabismus, developmental delay, failure to thrive, seizures, and distinctive facial features. The most severe cases of CDG-Ia are characterized by hydrops fetalis.

Phosphomannomutase 2 catalyzes the isomerization of mannose 6-phosphate to mannose 1-phosphate. Mannose 1-phosphate is a precursor to GDP-mannose necessary for the synthesis of dolichol-P-oligosaccharides.

磷酸甘露糖变位酶2 （英語： Phosphomannomutase 2）是一种由 基因 PMM2 编码的 酶 [4][5]。 PMM2是一种变位酶，将 甘露糖-6-磷酸 催化异构为 甘露糖-1-磷酸。 甘露糖-1-磷酸是 鸟苷二磷酸甘露糖 的前体，和 先天性糖基化障碍 （英语：Congenital disorder of glycosylation） 有关 [5]。

2005年8月15日 · PMM2-CDG, the most common of a group of disorders of abnormal glycosylation of N-linked oligosaccharides, is divided into three clinical stages: infantile multisystem, late-infantile and childhood ataxia–intellectual disability, and adult stable disability.

2015年8月6日 · PMM2-CDG, formerly known as congenital disorder of glycosylation type 1a, is a rare multisystem disorder that involves a normal, but complex, chemical process known as glycosylation. Glycosylation is the process by which sugar chains (glycans) are created, altered and chemically attached to certain proteins or fats (lipids).

该基因编码的蛋白质催化 6-磷酸甘露糖异构化为 1-磷酸甘露糖，后者是合成多萜醇-P-寡糖所必需的 GDP-甘露糖的前体。 该基因的突变已被证明会导致糖蛋白生物合成缺陷，表现为 I 型碳水化合物缺乏糖蛋白综合征。 [RefSeq 提供，2008 年 7 月] The protein encoded by this gene catalyzes the isomerization of mannose 6-phosphate to mannose 1-phosphate, which is a precursor to GDP-mannose necessary for the synthesis of dolichol-P-oligosaccharides.

2024年12月25日 · PMM2 (Phosphomannomutase 2) is a Protein Coding gene. Diseases associated with PMM2 include Congenital Disorder Of Glycosylation, Type Ia and Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay. Among its related pathways are Synthesis of substrates in N-glycan biosythesis and Diseases of glycosylation.

Phosphomannomutase 2 congenital disorder of glycosylation (PMM2-CDG) is a rare autosomal recessive genetic disorder that arises from defects in the PMM2 (phosphomannomutase 2) gene 1,2. The PMM2 gene encodes an enzyme (PMM2) responsible for converting mannose-6-phosphate to mannose-1-phosphate.

PMM-2M est un véhicule amphibie chenillé militaire russe capable de transporter des véhicules sur son toit et de les transporter sur l'eau à la manière d'un bac (bateau) ou d'un transbordeur.