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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
MMEL1 - Membrane Metalloendopeptidase Like 1
Alias:
NL1
NL2
SEP
NEP2
MMEL2
NEPII
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码的蛋白质是中性内肽酶(NEP)或膜金属内肽酶(MME)家族的成员。家族成员在疼痛感知、动脉血压调节、磷酸盐代谢和稳态中发挥重要作用。这个蛋白质是一种II型跨膜蛋白,被认为以分泌蛋白的形式表达。这个基因主要在睾丸中表达,大脑、肾脏和心脏中的表达较弱。[由RefSeq提供,2008年7月]
Related ID:
NCBI:79258
ENSEMBL:ENSG00000142606
HGNC:14668
UNIPROT:Q495T6
OMIM:618104
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
79258
1
24
42378 bp
89.37
51
1
3
4
MMEL1 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
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Abundance
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Interactions
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Acting
Regulation
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Reference
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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
Title
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Journal
Year
IF
No Data Found!
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