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ATXN2 Q99700

共济失调蛋白-2 (脊髓小脑性共济失调2型蛋白) (三核苷酸重复序列包含基因13蛋白)

蛋白质信息 (UniProt)

共济失调蛋白-2 (脊髓小脑性共济失调2型蛋白) (三核苷酸重复序列包含基因13蛋白)

Q99700

功能描述

参与EGFR运输,在质膜处作为内吞EGFR内化的负调控因子。 {ECO:0000269|PubMed:18602463}。

组织特异性

Expressed in the brain, heart, liver, skeletal muscle, pancreas and placenta. Isoform 1 is predominant in the brain and spinal cord. Isoform 4 is more abundant in the cerebellum. In the brain, broadly expressed in the amygdala, caudate nucleus, corpus callosum, hippocampus, hypothalamus, substantia nigra, subthalamic nucleus and thalamus.

亚细胞定位

Cytoplasm

关键词

3D-structure Alternative splicing Amyotrophic lateral sclerosis Cytoplasm Isopeptide bond Methylation Neurodegeneration Parkinsonism Phosphoprotein Proteomics identification