I-cell disease
Inclusion-cell (I-cell) disease, also referred to as mucolipidosis II (ML II), is part of the lysosomal storage disease family and results from a defective phosphotransferase (an enzyme of the Golgi apparatus). This enzyme transfers phosphate to mannose residues on specific proteins. Mannose-6-phosphate serves as a marker for proteins to be targeted to lysosomes within the cell. Without this marker, proteins are instead secreted outside the cell, which is the default pathway for proteins moving through the Golgi apparatus. Lysosomes cannot function without these proteins, which function as catabolic enzymes for the normal breakdown of substances (e.g. oligosaccharides, lipids, and glycosaminoglycans) in various tissues throughout the body (i.e. fibroblasts). As a result, a buildup of these
Coarse facial features1,2-dimethoxyethaanI-cellI Cell DiseaseI Cell diseaseI cell diseaseInclusion-Cell DiseaseInclusion-cell diseaseInclusion cell diseaseLectinList of diseases (I)Lysosomal storage diseaseLysosomeML IIMannose 6-phosphateMannose 6-phosphate receptorMucolipidosisMucolipidosis IIMucolipidosis IiN-acetylglucosamine-1-phosphate transferasePseudo-Hurler polydystrophy
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primaryTopic
I-cell disease
Inclusion-cell (I-cell) disease, also referred to as mucolipidosis II (ML II), is part of the lysosomal storage disease family and results from a defective phosphotransferase (an enzyme of the Golgi apparatus). This enzyme transfers phosphate to mannose residues on specific proteins. Mannose-6-phosphate serves as a marker for proteins to be targeted to lysosomes within the cell. Without this marker, proteins are instead secreted outside the cell, which is the default pathway for proteins moving through the Golgi apparatus. Lysosomes cannot function without these proteins, which function as catabolic enzymes for the normal breakdown of substances (e.g. oligosaccharides, lipids, and glycosaminoglycans) in various tissues throughout the body (i.e. fibroblasts). As a result, a buildup of these
has abstract
Doença de célula I (Mucolipido ...... ato que ainda não é conhecido.
@pt
I-кле́точная боле́знь (муколип ...... козаминогликаны внутри клетки.
@ru
I-細胞疾病是一種遺傳病,其會導致溶小體酵素的缺失,引起細胞結構不正常。 此遺傳病的發生率未知,荷蘭研究指出約為640000分之1。 遺傳方面,其遺傳方式為體染色體隱性遺傳疾病。
@zh
Inclusion-cell (I-cell) diseas ...... ow lysosomal pH 5 to function.
@en
La malaltia de les cèl·lules I ...... porta beneficis significatius.
@ca
Penyakit I-cell adalah salah s ...... mbentuk sel sickle atau sel I.
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eMedicine subject
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ped
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eMedicine topic
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1150
@en
geneReviewsId
geneReviewsName
Mucolipidosis II
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OMIM id
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Wikipage page ID
page length (characters) of wiki page
Wikipage revision ID
1,000,152,081
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causes
Mutation in the N-acetylglucosamine-1-phosphotransferase gene
@en
DiseasesDB
eMedicineSubj
ped
@en
eMedicineTopic
field
GeneReviewsName
Mucolipidosis II
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GeneReviewsNBK
NBK1828
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ICD
MeshID
D009081
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name
I-cell disease
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OMIM
synonyms
Mucolipidosis II
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wikiPageUsesTemplate
wordnet_type
hypernym
comment
Doença de célula I (Mucolipido ...... centração das hidrolases lisos
@pt
I-кле́точная боле́знь (муколип ...... козаминогликаны внутри клетки.
@ru
I-細胞疾病是一種遺傳病,其會導致溶小體酵素的缺失,引起細胞結構不正常。 此遺傳病的發生率未知,荷蘭研究指出約為640000分之1。 遺傳方面,其遺傳方式為體染色體隱性遺傳疾病。
@zh
Inclusion-cell (I-cell) diseas ...... s a result, a buildup of these
@en
La malaltia de les cèl·lules I ...... porta beneficis significatius.
@ca
Penyakit I-cell adalah salah s ...... m substansi jaringan ikat sepe
@in
label
I-Zellkrankheit
@de
I-cell disease
@en
I-клеточная болезнь
@ru
I-細胞疾病
@zh
Malaltia de les cèl·lules I
@ca
Mucolipidose II
@pt
Penyakit I-cell
@in
sameAs
wasDerivedFrom
isPrimaryTopicOf
name
I-cell disease
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