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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
MYOC - Myocilin
Alias:
GPOA
JOAG
TIGR
GLC1A
JOAG1
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
心肌素编码蛋白心肌素,被认为在细胞骨架功能中起作用。心肌素在许多眼部组织中表达,包括小梁网,并被发现是小梁网糖皮质激素诱导的反应蛋白(TIGR)。小梁网是一种特殊的眼部组织,对调节眼内压至关重要,MYOC的突变已被认为是由遗传性青少年发作开角性青光眼引起的原因。[由RefSeq,2008年7月提供]
Related ID:
NCBI:4653
ENSEMBL:ENSG00000034971
HGNC:7610
UNIPROT:Q99972
OMIM:601652
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
4653
1
3
17272 bp
56.97
308
4
8
65
MYOC 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
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Interactions
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Acting
Regulation
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Related Mouse Models
Type
Name
MGI
Strain of Origin
Publications
Mutations
No data available
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Name
CAS Number
Status
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Link
No data available
References Literature
Title
PMID
Journal
Year
IF
No Data Found!
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