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中文人类
LETM1 - Leucine Zipper And EF-hand Containing Transmembrane Protein 1
Alias:
Mdm38
CONDMIM
SLC55A1
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这个基因编码一个定位在内质网膜上的蛋白质。该蛋白质的功能是维持线粒体管状形态，并对于正常的线粒体形态和细胞活力是必需的。这个基因的突变导致Wolf-Hirschhorn综合征，这是一种由4号染色体短臂远端部分缺失引起的复杂畸形综合征。相关的假基因已经在染色体8、15和19上被鉴定。[由RefSeq，2009年10月提供]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
LETM1 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
