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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
ANKK1 - Ankyrin Repeat And Kinase Domain Containing 1
Alias:
PKK2
sgK288
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码的蛋白质属于Ser/Thr蛋白激酶家族,并参与信号传导途径的蛋白激酶超家族。这个基因与DRD2基因(GeneID:1813)紧密连锁,位于染色体11上。一个被广泛研究的限制性片段长度多态性(RFLP)Taq1A最初与DRD2基因相关,但后来被确定为位于ANKK1基因(PMIDs: 18621654, 15146457)的第8外显子上,导致一个非保守的氨基酸替换。目前尚不清楚这个基因是否与之前与Taq1A RFLP相关的神经精神障碍有任何作用。[由RefSeq,2009年9月提供]
Related ID:
NCBI:255239
ENSEMBL:ENSG00000170209
HGNC:21027
UNIPROT:Q8NFD2
OMIM:608774
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
255239
5
8
12638 bp
84.63
56
--
2
4
ANKK1 Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
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Transcripts & Proteins
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* This data comes from NCBI.
Gene Expression
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References Literature
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