人类

ZMPSTE24 - Zinc Metallopeptidase STE24

Alias:
HGPS
PRO1
FACE1
RSDM1
STE24
FACE-1
Ste24p
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码了金属蛋白酶M48A家族的一个成员。编码的蛋白质是一个锌金属蛋白酶,参与了翻译后两步对法尼基化前角蛋白A羧基末端残基的蛋白水解切割,形成成熟的角蛋白A。这个基因的突变与颌面-肢端发育不良和限制性皮肤发育不良有关。[由RefSeq提供,2008年7月]

Basic Information

NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
3
10
35945 bp
54.81
196
4
6
19

ZMPSTE24 Genetics information (+)

GRCh38

Sequence Homology

Related Diseases and Mutations

#
Disease
Anatomical Category
Score
Mutations
No data available

Transcripts & Proteins

Table View
Tile View
#
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
Alphabetical

Interactions

Acting
Regulation
Detail
Mechanism
Target
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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Mutation Direct
Sequence
Comparison
Al agent
Tutorials
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