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COL4A5 c.1390G>A
ALS1
DMD c.1332-11868C>G
TP53
肌萎缩侧索硬化症1型
USH2A c.8559-2A>G
囊性纤维化
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中文
人类
FUCA2 - Alpha-L-fucosidase 2
Alias:
dJ20N2.5
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这种基因编码一种血浆α-L-岩藻糖苷酶,占细胞总岩藻糖苷酶活性的10-20%。该蛋白是糖基水解酶29家族的成员,催化水解与糖蛋白的碳水化合物部分的减少端N-乙酰葡萄糖胺连接的α-1,6-连接的岩藻糖。这种酶对于幽门螺杆菌粘附到人类胃癌细胞上是必需的。[RefSeq,2010年8月提供]
Related ID:
NCBI:2519
ENSEMBL:ENSG00000001036
HGNC:4008
UNIPROT:Q9BTY2
OMIM:136820
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
2519
1
7
16909 bp
54.07
19
--
5
7
FUCA2 Genetics information (-)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
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No data available
Transcripts & Proteins
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Transcript
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Length(aa)
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* This data comes from NCBI.
Gene Expression
Tissue-specific RNA expression
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Type
Name
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References Literature
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No Data Found!
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