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中文人类
MCPH1 - Microcephalin 1
Alias:
MCT
BRIT1
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这个基因编码一个DNA损伤应答蛋白。编码的蛋白质可能通过维持细胞周期蛋白依赖性激酶1的抑制磷酸化作用，在G2/M检查点中发挥作用。这个基因的突变与原发性常染色体隐性小头畸形1和早龄染色体浓缩综合症有关。已经描述了可变剪接的转录变异体。[由RefSeq，2010年2月提供]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
MCPH1 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
