人 CLTCL1 抗体对
01AB00484
Clathrin Heavy Chain Like 1 (CLTCL1), encoded by the CLTCL1 gene, is a protein homologous to the clathrin heavy chain (CLTC) and plays a role in clathrin-mediated intracellular trafficking. Structurally, CLTCL1 contains a terminal globular domain for cargo binding, a proximal helical tripod for triskelion assembly, and a C-terminal light-chain-binding motif. Unlike CLTC, CLTCL1 is primarily expressed in the brain, testis, and skeletal muscle, and it forms distinct clathrin lattices, influencing vesicle formation during endocytosis, organelle biogenesis, and receptor recycling. CLTCL1 also interacts with adaptor proteins like AP-1 and NECAP1, modulating synaptic vesicle recycling and Golgi-lysosomal trafficking. CLTCL1 mutations are linked to rare neurodevelopmental disorders and myopathies. For instance, homozygous loss-of-function variants are associated with severe infantile encephalopathy, hypotonia, and developmental delay. Additionally, dysregulated CLTCL1 expression is implicated in Alzheimer’s disease pathology, potentially affecting amyloid precursor protein trafficking.
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技术参数
- 靶点基因名
- CLTCL1
- 基因别名
- CLH22; CLTCL; CLTD
- 蛋白别名
- clathrin heavy chain like 1; CLTCL1
- UniProt
- P53675
- 物种
- Human
产品详情
- 靶点名称
- CLTCL1
- 蛋白名称
- clathrin heavy chain like 1
- 蛋白别名
- Clathrin heavy chain 2; Clathrin heavy chain on chromosome 22; CLH-22
- 靶点基因名
- CLTCL1
- 基因别名
- CLH22; CLTCL; CLTD
- UniProt
- P53675
- 来源物种
- Homo sapiens (Human)
- 物种反应性
- Human
背景介绍
Clathrin Heavy Chain Like 1 (CLTCL1), encoded by the CLTCL1 gene, is a protein homologous to the clathrin heavy chain (CLTC) and plays a role in clathrin-mediated intracellular trafficking. Structurally, CLTCL1 contains a terminal globular domain for cargo binding, a proximal helical tripod for triskelion assembly, and a C-terminal light-chain-binding motif. Unlike CLTC, CLTCL1 is primarily expressed in the brain, testis, and skeletal muscle, and it forms distinct clathrin lattices, influencing vesicle formation during endocytosis, organelle biogenesis, and receptor recycling. CLTCL1 also interacts with adaptor proteins like AP-1 and NECAP1, modulating synaptic vesicle recycling and Golgi-lysosomal trafficking. CLTCL1 mutations are linked to rare neurodevelopmental disorders and myopathies. For instance, homozygous loss-of-function variants are associated with severe infantile encephalopathy, hypotonia, and developmental delay. Additionally, dysregulated CLTCL1 expression is implicated in Alzheimer’s disease pathology, potentially affecting amyloid precursor protein trafficking.