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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
CRYL1 - Crystallin Lambda 1
Alias:
GDH
HEL30
gul3DH
lambda-CRY
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
尿苷酸循环作为葡萄糖代谢的替代途径,占每日葡萄糖分解代谢的大约5%。这个基因编码的产物在尿苷酸循环中催化L-古乐糖的脱氢反应,生成脱氢L-古乐糖。该酶需要NAD(H)作为辅酶,并受到无机磷酸盐的抑制。据认为,兔子里类似的基因在眼睛晶状体中起到结构作用。[RefSeq,2008年7月提供]
Related ID:
NCBI:51084
ENSEMBL:ENSG00000165475
HGNC:18246
UNIPROT:Q9Y2S2
OMIM:609877
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
51084
3
8
122189 bp
35.42
98
--
4
7
CRYL1 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
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Cell-specific RNA expression
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Acting
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Related Mouse Models
Type
Name
MGI
Strain of Origin
Publications
Mutations
No data available
Related Drugs
Name
CAS Number
Status
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Link
No data available
References Literature
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IF
No Data Found!
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