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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
ABCA13 - ATP Binding Cassette Subfamily A Member 13
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
在人类中,ATP结合盒(ABC)家族的跨膜转运蛋白至少有48个基因和7个基因亚家族。这个基因是ABCA基因亚家族的成员。ABCA家族内的基因通常编码数千个氨基酸。与其他ABC跨膜转运蛋白类似,这种蛋白质具有12个或更多的跨膜α-螺旋结构域,可能排列形成具有多个底物结合位点的单个中央室。据预测,它还具有两个大型细胞外域和两个核苷酸结合结构域,这是ABCA蛋白质的典型特征。已经描述了替代剪接变体,但它们的生物学有效性尚未得到证实。[RefSeq,2009年3月提供]
Related ID:
NCBI:154664
ENSEMBL:ENSG00000179869
HGNC:14638
UNIPROT:Q86UQ4
OMIM:607807
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
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Reference
154664
26
62
476040 bp
576.16
288
--
7
5
ABCA13 Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
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* This data comes from NCBI.
Gene Expression
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