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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
AHCY - Adenosylhomocysteinase
Alias:
SAHH
adoHcyase
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
S-腺苷高半胱氨酸水解酶属于腺苷高半胱氨酸酶家族。它可催化S-腺苷高半胱氨酸(AdoHcy)可逆水解为腺苷(Ado)和L-高半胱氨酸(Hcy)。因此,它调节细胞内S-腺苷高半胱氨酸(SAH)浓度,认为这对于转甲基反应非常重要。该蛋白的缺乏是高甲硫氨酸血症的不同原因之一。已发现该基因的替代剪接转录变异体编码不同的异构体。[RefSeq,2009年6月提供]
Related ID:
NCBI:191
ENSEMBL:ENSG00000101444
HGNC:343
UNIPROT:P23526
OMIM:180960
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
191
9
10
79856 bp
47.72
232
2
11
25
AHCY 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
Reset
Acting
Regulation
Detail
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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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