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中文人类
ATAD3A - ATPase Family AAA Domain Containing 3A
Alias:
HAYOS
PHRINL
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这个基因编码一种在所有细胞中表达的线粒体膜蛋白，对线粒体动态、核区组织、蛋白质翻译、细胞生长和胆固醇代谢有贡献。这个基因是ATPase家族AAA域包含3基因家族的一员，该家族在人类中包括另外两个同源基因。这个基因的自然突变与包括哈雷-尤恩综合症在内的特定神经系统综合症有关。这个基因的高水平表达与乳腺癌患者的生存率低有关。小鼠中该基因的同源基因的双等位基因敲除会导致胚胎在第7.5天由于生长迟缓和滋养层谱系发育缺陷而死亡。可变剪接导致多种转录变体。[由RefSeq提供，2017年2月]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
ATAD3A 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
