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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
RBMXL2 - RBMX Like 2
Alias:
HNRPGT
HNRNPGT
HNRNPG-T
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因属于HNRPG亚家族,该亚家族是普遍表达的异质核核糖核蛋白(hnRNPs)。hnRNPs是RNA结合蛋白,它们与异质核RNA(hnRNA)复合。这些蛋白质与核中的预mRNA相关联,并影响预mRNA的加工和mRNA代谢和运输的其他方面。虽然所有hnRNPs都在核中存在,但一些似乎在核质之间穿梭。hnRNP蛋白具有独特的核酸结合特性。这个基因编码的蛋白质具有两个与RNA结合的RRM结构域。这个基因没有内含子,被认为是通过加工反转录转座子衍生的。然而,与许多反转录转座子衍生的基因不同,这个基因不是假基因。编码的蛋白质与HNRPG和RBMY蛋白质相似,被认为在减数前期替换HNRPG蛋白功能或作为生殖细胞特异性的剪接调节剂。它主要定位到减数分裂的精母细胞的细胞核中。这个基因是常染色体男性不育的候选基因。[由RefSeq,2008年7月提供]
Related ID:
NCBI:27288
ENSEMBL:ENSG00000170748
HGNC:17886
UNIPROT:O75526
OMIM:605444
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
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Reference
27288
1
1
2151 bp
42.81
30
--
4
3
RBMXL2 Genetics information (+)
GRCh38
Sequence Homology
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* This data comes from NCBI.
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