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COL4A5 c.1390G>A
ALS1
DMD c.1332-11868C>G
TP53
肌萎缩侧索硬化症1型
USH2A c.8559-2A>G
囊性纤维化
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中文
人类
SAMD9L - Sterile Alpha Motif Domain Containing 9 Like
Alias:
UEF1
ATXPC
DEL7q
DRIF2
MLSM7
SCA49
C7DELq
C7orf6
M7MLS1
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码一个细胞质蛋白,作为肿瘤抑制因子,同时也在细胞增殖和针对病毒感染的先天免疫反应中扮演关键角色。编码的蛋白质包含一个N-末端的无菌阿尔文模序结构域。这个基因的自然突变与髓样疾病如幼年粒单核细胞白血病、急性髓细胞白血病和骨髓增生异常综合症相关。自然突变还与乙型肝炎相关的肝细胞癌、正常磷酸盐血症家族性肿瘤性钙化病和共济失调-全血细胞减少综合症相关。[由RefSeq,2017年4月提供]
Related ID:
NCBI:219285
ENSEMBL:ENSG00000177409
HGNC:1349
UNIPROT:Q8IVG5
OMIM:611170
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
219285
9
5
18330 bp
184.53
692
4
6
10
SAMD9L Genetics information (-)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
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No data available
Transcripts & Proteins
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Transcript
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Protein
Length(aa)
No data available
* This data comes from NCBI.
Gene Expression
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Type
Name
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Status
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