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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
小鼠
Fancl - Fanconi anemia, complementation group L
Alias:
Pog
gcd
Phf9
2010322C19Rik
B230118H11Rik
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Basic Information
Sequence Homology
Transcripts & Proteins
Gene Expression
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References Literature
这个基因编码多聚Fanconi贫血(FA)核复合物的补充分组L亚基,该复合物由超过十个Fanconi贫血补充分组(FANC)基因编码的蛋白质组成。FA复合物对于保护DNA免受损伤是必要的。这个基因产物是一种E3泛素连接酶,催化并需要Fanconi贫血,补充分组D2基因编码的蛋白质的单泛素化,这是FA途径中的一个关键步骤(PMID: 12973351, 21229326)。在鼠中,这个E3泛素连接酶基因的突变可能导致成年男女不育,而这个基因的缺失在某些遗传背景下可能导致胚胎致死。在这个基因的一个假基因已经在染色体1上被识别。选择性剪接导致多个转录变异体。[RefSeq,2013年3月提供]
Related ID:
NCBI:67030
ENSEMBL:ENSMUSG00000004018
UNIPROT:Q9CR14
Basic Information
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67030
2
14
84800 bp
42.53
5
6
Fancl Genetics information (+)
GRCm39
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* This data comes from NCBI.
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