人 GIPC3 抗体对
01AB03117
GIPC PDZ domain containing family member 3 (GIPC3) is a cytosolic scaffolding protein characterized by a central PDZ domain. It localizes to the stereocilia of cochlear hair cells, where it is required for the maturation and structural integrity of the hair bundle and the survival of spiral ganglion neurons. GIPC3 links transmembrane receptors to the actin cytoskeleton, partly via interactions with myosin VI. Loss-of-function variants in GIPC3 cause autosomal recessive non-syndromic sensorineural hearing loss (DFNB15/DFNB95), manifesting as congenital or early-onset deafness due to cochlear degeneration.
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技术参数
- 靶点基因名
- GIPC3
- 基因别名
- C19orf64
- 蛋白别名
- GIPC PDZ domain containing family member 3; GIPC3
- UniProt
- Q8TF64
- 物种
- Human
产品详情
- 靶点名称
- GIPC3
- 蛋白名称
- GIPC PDZ domain containing family member 3
- 蛋白别名
- PDZ domain-containing protein GIPC3
- 靶点基因名
- GIPC3
- 基因别名
- C19orf64
- UniProt
- Q8TF64
- 来源物种
- Homo sapiens (Human)
- 物种反应性
- Human
背景介绍
GIPC PDZ domain containing family member 3 (GIPC3) is a cytosolic scaffolding protein characterized by a central PDZ domain. It localizes to the stereocilia of cochlear hair cells, where it is required for the maturation and structural integrity of the hair bundle and the survival of spiral ganglion neurons. GIPC3 links transmembrane receptors to the actin cytoskeleton, partly via interactions with myosin VI. Loss-of-function variants in GIPC3 cause autosomal recessive non-syndromic sensorineural hearing loss (DFNB15/DFNB95), manifesting as congenital or early-onset deafness due to cochlear degeneration.