GNPTAB Gene - GeneCards | GNPTA Protein | GNPTA Antibody
2024年12月25日 · GNPTAB (N-Acetylglucosamine-1-Phosphate Transferase Subunits Alpha And Beta) is a Protein Coding gene. Diseases associated with GNPTAB include Mucolipidosis Ii …
GNPTAB-Related Disorders - GeneReviews® - NCBI Bookshelf
2008年8月26日 · GNPTAB-related disorders are autosomal recessive lysosomal storage disorders. The partial inactivation of N-acetylglucosamine-1-phosphotransferase subunits …
N-acetylglucosamine-1-phosphate transferase - Wikipedia
GNPTAB produces the alpha and beta subunits, GNPTG produces the gamma subunit. GlcNAc-1-phosphotransferase functions to prepare newly made enzymes for lysosome transportation …
N-乙酰葡糖胺-1-磷酸转移酶亚基α和β（GNPTAB）基因 | MCE
该基因编码膜结合酶 N-乙酰葡糖胺-1-磷酸转移酶的三种亚基类型中的两种，这是一种由两个 α、两个 β 和两个 γ 亚基组成的异六聚体复合物。 编码的蛋白质在 Lys928-Asp929 键处被蛋白水解 …
GNPTAB gene - MedlinePlus
The GNPTAB gene provides instructions for making two different parts, the alpha and beta subunits, of an enzyme called GlcNAc-1-phosphotransferase. Learn about this gene and …
Pathogenic variants in GNPTAB and GNPTG encoding distinct
2021年8月2日 · Pathogenic variants in GNPTAB and GNPTG, encoding different subunits of GlcNAc-1-phosphotransferase, cause mucolipidosis (ML) II, MLIII alpha/beta, and MLIII …
GNPTAB N-acetylglucosamine-1-phosphate transferase subunits …
2025年2月8日 · identified 3 mutations in GNPTAB gene in subjects with stuttering; Fifty-one pathogenic changes in GNPTAB are presented, including 42 novel mutations causing …
GNPTAB人源基因|GNPTAB基因突变_致病性_靶点-RDDC官网
这个基因编码膜结合酶N-乙酰葡萄糖胺-1-磷酸转移酶的三个亚基类型中的两个，这是一个由两个α、两个β和两个γ亚基组成的异六聚体复合物。 编码的蛋白质在Lys928-Asp929键处被蛋白水 …
GNPTAB -Related Disorders - PubMed
2019年8月29日 · Clinical characteristics: GNPTAB -related disorders comprise the phenotypes mucolipidosis II (ML II) and mucolipidosis IIIα/β (ML IIIα/β), and phenotypes intermediate …
N-ACETYLGLUCOSAMINE-1-PHOSPHOTRANSFERASE, ALPHA/BETA SUBUNITS; GNPTAB
UDP-N-acetylglucosamine:lysosomal-enzyme N-acetylglucosamine-1-phosphotransferase (GlcNAc-phosphotransferase; EC 2.7.8.17) catalyzes the initial step in the synthesis of the …