| H00143 | |
| H番号 | H00143 |
| 名称 | ムコリピドーシス II 型; I 細胞病 |
| 概要 | Mucolipidosis type II, also known as I-cell disease, is an autosomal recessive lysosomal storage disorder caused by the deficiency of N-acetylglucosamine-1-phosphate transferase which is multimeric enzyme involved in phosphotransfer of UDP-N-acetylglucosamine to lysosomal enzymes (glycoproteins). It is the necessary process for the transport of newly synthesized lysosomal proteins to the lysosomes. |
| カテゴリ | 先天性代謝異常症, ライソゾーム病 |
| ネットワーク | - |
| 病因遺伝子 | GNPTAB [HSA:79158] [KO:K08239] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | - |
| リンク | ICD-11: 5C56.20 ICD-10: E77.0 MeSH: D009081 OMIM: 252500 |
| 文献 | PMID:16465621 著者 Kudo M, Brem MS, Canfield WM タイトル Mucolipidosis II (I-cell disease) and mucolipidosis IIIA (classical pseudo-hurler polydystrophy) are caused by mutations in the GlcNAc-phosphotransferase alpha / beta -subunits precursor gene. 雑誌 Am J Hum Genet 78:451-63 (2006) DOI:10.1086/500849 PMID:16630736 著者 Bargal R, Zeigler M, Abu-Libdeh B, Zuri V, Mandel H, Ben Neriah Z, Stewart F, Elcioglu N, Hindi T, Le Merrer M, Bach G, Raas-Rothschild A タイトル When Mucolipidosis III meets Mucolipidosis II: GNPTA gene mutations in 24 patients. 雑誌 Mol Genet Metab 88:359-63 (2006) DOI:10.1016/j.ymgme.2006.03.003 PMID:19124046 著者 Dierks T, Schlotawa L, Frese MA, Radhakrishnan K, von Figura K, Schmidt B タイトル Molecular basis of multiple sulfatase deficiency, mucolipidosis II/III and Niemann-Pick C1 disease - Lysosomal storage disorders caused by defects of non-lysosomal proteins. 雑誌 Biochim Biophys Acta 1793:710-25 (2009) DOI:10.1016/j.bbamcr.2008.11.015 |