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中文人类
A2ML1 - Alpha-2-macroglobulin Like 1
Alias:
OMS
p170
CPAMD9
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这个基因编码α-宏球蛋白超家族的一员。编码的蛋白质被认为是N-糖基化的单体蛋白质，作为几种蛋白酶的抑制剂。已经证明它可以与蛋白酶形成共价相互作用，并被报道为在自身免疫性疾病副肿瘤天疱疮（PNP；PMID:20805888）中被自身抗体识别的p170抗原。这些基因的突变也与诺顿综合征（NS；PMID:24939586）的一些病例以及中耳炎（PMID:26121085）的一些病例有关。可变剪接导致多个转录变异体，编码不同的异构体。[由RefSeq，2015年8月提供]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
A2ML1 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
