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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
CHSY1 - Chondroitin Sulfate Synthase 1
Alias:
CHSY
CSS1
TPBS
ChSy-1
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码一种硫酸软骨素N-乙酰半乳糖胺转移酶家族的成员。这些酶具有葡萄糖醛酸转移酶和半乳糖胺转移酶的双重活性,并在硫酸软骨素的生物合成中起到关键作用,硫酸软骨素是一种参与许多生物过程包括细胞增殖和形态发生的糖胺聚糖。这个基因的表达减少可能在结直肠癌中发挥作用,而这个基因的突变是导致temtamy前轴短指综合征的原因。[由RefSeq提供,2011年12月]
Related ID:
NCBI:22856
ENSEMBL:ENSG00000131873
HGNC:17198
UNIPROT:Q86X52
OMIM:608183
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
22856
5
3
76322 bp
91.78
196
1
7
9
CHSY1 Genetics information (-)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
Disease
Anatomical Category
Score
Mutations
No data available
Transcripts & Proteins
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#
Transcript
Length(nt)
Exon Count
CDS(bp)
Protein
Length(aa)
No data available
* This data comes from NCBI.
Gene Expression
Tissue-specific RNA expression
Organ
Abundance
Alphabetical
Cell-specific RNA expression
Organ
Abundance
Alphabetical
Interactions
Reset
Acting
Regulation
Detail
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Target
Residues
Reference
Score
No data available
Related Mouse Models
Type
Name
MGI
Strain of Origin
Publications
Mutations
No data available
Related Drugs
Name
CAS Number
Status
Phase
Link
No data available
References Literature
Title
PMID
Journal
Year
IF
No Data Found!
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