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SH3TC2 Q8TF17

含SH3结构域和四三肽重复序列蛋白2

蛋白质信息 (UniProt)

含SH3结构域和四三肽重复序列蛋白2

Q8TF17

功能描述

参与神经髓鞘形成,且是郎飞结完整性所必需的 (By similarity)。其可能作为Rab效应因子在胞吞循环调控中发挥作用 (PubMed:20028792, PubMed:20826437)。 {ECO:0000250|UniProtKB:Q80VA5, ECO:0000269|PubMed:20028792, ECO:0000269|PubMed:20826437}。

组织特异性

Strongly expressed in brain and spinal cord. Expressed at equal level in spinal cord and sciatic nerve. Weakly expressed in striated muscle.

亚细胞定位

Cell membrane

关键词

Alternative splicing Cell membrane Charcot-Marie-Tooth disease Disease variant Endosome Lipoprotein Membrane Myristate Neurodegeneration Neuropathy