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中文人类
SYNGAP1 - Synaptic Ras GTPase Activating Protein 1
Alias:
MRD5
RASA1
RASA5
SYNGAP
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这个基因编码一种Ras GTP酶激活蛋白，是N-甲基-D-天门冬氨酸受体复合体的成员。该蛋白的N端结构域包含一个Ras-GAP结构域，一个pleckstrin同源性结构域，和一个可能参与结合钙和磷脂的C2结构域。C端结构域由一个十组组氨酸重复区域，丝氨酸和酪氨酸磷酸化位点，和一个与突触后支架蛋白相互作用所需的T/SXV基序组成。编码的蛋白负调控Ras，Rap和α-氨基-3-羟基-5-甲基-4-异恶唑丙酸受体在突触后膜上的转运，以调节突触可塑性和神经元的内环境稳定。这个基因的等位基因变异与智力障碍和自闭症谱系障碍有关。可变剪接导致多个转录变异体。[由RefSeq，2016年11月提供]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
SYNGAP1 Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
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Anatomical Category
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Mutations
Transcripts & Proteins
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Tile View
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Transcript
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* This data comes from NCBI.
Gene Expression
Tissue-specific RNA expression
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Alphabetical
Cell-specific RNA expression
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References Literature
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