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中文人类
TRNT1 - TRNA Nucleotidyl Transferase 1
Alias:
CCA1
RPEM
SIFD
MtCCA
CGI-47
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这个基因编码的蛋白质是一种属于tRNA核苷酸转移酶/聚(A)聚合酶家族的添加CCA的酶。这种基本酶通过催化将保守的核苷酸三联体CCA添加到tRNA分子的3'末端来发挥作用。这个基因的突变导致铁粒性贫血，伴有B细胞免疫缺陷、周期性发热和发育迟滞。可变剪接导致多个转录变异体。[由RefSeq，2014年12月提供]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
TRNT1 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
