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中文人类
AMPD1 - Adenosine Monophosphate Deaminase 1
Alias:
MAD
MADA
MMDD
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肌酸单磷酸脱氨酶1在骨骼肌中催化AMP脱氨成IMP，并在嘌呤核苷酸循环中扮演重要角色。已经发现了另外两个基因AMPD2和AMPD3，分别负责肝脏特异性的异构体和红细胞特异性的异构体。肌酸单磷酸脱氨酶1缺乏症显然是运动诱导性肌病的一种常见原因，可能是人类中代谢性肌病最常见的病因。在这个基因中已经发现了编码不同异构体的替代剪接转录变异体。[RefSeq，2010年2月提供]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
AMPD1 Genetics information (-)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
Disease
Anatomical Category
Score
Mutations
Transcripts & Proteins
Table View
Tile View
#
Transcript
Length(nt)
Exon Count
CDS(bp)
Protein
Length(aa)
* This data comes from NCBI.
Gene Expression
Tissue-specific RNA expression
Organ
Abundance
Alphabetical
Cell-specific RNA expression
Organ
Abundance
Alphabetical
Interactions
Acting
Regulation
Detail
Mechanism
Target
Residues
Reference
Score
Related Mouse Models
Type
Name
MGI
Strain of Origin
Publications
Mutations
Related Drugs
Name
CAS Number
Status
Phase
Link
References Literature
Title
PMID
Journal
Year
IF
