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中文人类
DCLRE1C - DNA Cross-link Repair 1C
Alias:
SCIDA
SNM1C
A-SCID
RS-SCID
DCLREC1C
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这个基因编码一种核蛋白，参与V(D)J重组和DNA修复。编码的蛋白质具有单链特异性的5'-3'外切核酸酶活性；它还可以在5'和3'突出端和发卡结构中表现出核酸内切酶活性。该蛋白质还负责调节细胞周期，以响应DNA损伤。这个基因的突变可能导致Athabascan型严重联合免疫缺陷（SCIDA）和Omenn综合征。可变剪接导致多个转录变异体。[由RefSeq，2014年1月提供]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
DCLRE1C 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
