人 SHD 抗体对
01AB02544
Src homology 2 domain containing transforming protein D (SHD) is an intracellular adaptor protein characterized by an SH2 domain that mediates phosphotyrosine residue binding. Located on chromosome 19p13.3, SHD functions as a scaffold to assemble signaling complexes downstream of receptor and non-receptor tyrosine kinases. It is predicted to participate in tyrosine kinase-mediated signaling pathways by recognizing phosphorylated tyrosines, thereby facilitating protein-protein interactions rather than exhibiting enzymatic activity. Clinically, pathogenic variants in SHD are associated with ectodermal dysplasia 12, characterized by defective development of sweat glands, hair, and teeth, as well as autosomal recessive spinocerebellar ataxia 14, a neurodegenerative disorder featuring progressive gait and limb ataxia.
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技术参数
- 靶点基因名
- SHD
- 蛋白别名
- Src homology 2 domain containing transforming protein D; SHD
- UniProt
- Q96IW2
- 物种
- Human
产品详情
- 靶点名称
- SHD
- 蛋白名称
- Src homology 2 domain containing transforming protein D
- 蛋白别名
- SH2 domain-containing adapter protein D
- 靶点基因名
- SHD
- UniProt
- Q96IW2
- 来源物种
- Homo sapiens (Human)
- 物种反应性
- Human
背景介绍
Src homology 2 domain containing transforming protein D (SHD) is an intracellular adaptor protein characterized by an SH2 domain that mediates phosphotyrosine residue binding. Located on chromosome 19p13.3, SHD functions as a scaffold to assemble signaling complexes downstream of receptor and non-receptor tyrosine kinases. It is predicted to participate in tyrosine kinase-mediated signaling pathways by recognizing phosphorylated tyrosines, thereby facilitating protein-protein interactions rather than exhibiting enzymatic activity. Clinically, pathogenic variants in SHD are associated with ectodermal dysplasia 12, characterized by defective development of sweat glands, hair, and teeth, as well as autosomal recessive spinocerebellar ataxia 14, a neurodegenerative disorder featuring progressive gait and limb ataxia.