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中文人类
ABAT - 4-aminobutyrate Aminotransferase
Alias:
GABAT
NPD009
GABA-AT
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4-氨基丁酸氨基转移酶（ABAT）负责将中枢神经系统中主要抑制性神经递质γ-氨基丁酸（GABA）分解成琥珀酸半醛。活性酶是一个50-kD亚基的同源二聚体，与吡哆醇-5-磷酸复合。蛋白质序列与猪蛋白质序列相似度超过95%。GABA估计存在于大约三分之一的人类突触中。肝脏和大脑中的ABAT由两个共显性等位基因控制，白种人中的频率为0.56和0.44。ABAT缺乏表型包括精神运动迟缓、肌张力过低、反射亢进、嗜睡、顽固性癫痫发作和EEG异常。已经发现这个基因有多个可变剪接转录变异体，编码相同的蛋白质同型。[RefSeq,2008年7月提供]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
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ABAT Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
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Anatomical Category
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Transcripts & Proteins
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* This data comes from NCBI.
Gene Expression
Tissue-specific RNA expression
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Cell-specific RNA expression
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References Literature
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