抗人 SAMD7 抗体对
01AB02028
Sterile alpha motif domain containing 7 (SAMD7) is a nuclear protein that functions as a DNA-binding transcriptional repressor specifically in rod photoreceptors. It is a key component of a Polycomb group PRC1-like complex, where it facilitates epigenetic silencing of non-rod genes by promoting repressive histone marks such as H3K27me3 and H2AK119ub. This activity is essential for establishing and maintaining rod photoreceptor identity and function. SAMD7 expression is highly enriched in the retina and is directly regulated by the photoreceptor-specific transcription factor CRX. Clinically, SAMD7 is implicated in inherited retinal diseases. Pathogenic variants in the SAMD7 gene are associated with macular dystrophy, which may occur with or without cone dysfunction, as well as hereditary keratitis and broader forms of macular degeneration.
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技术参数
- 靶点基因名
- SAMD7
- 蛋白别名
- sterile alpha motif domain containing 7; SAMD7
- UniProt
- Q7Z3H4
- 物种
- Human
产品详情
- 靶点名称
- SAMD7
- 蛋白名称
- sterile alpha motif domain containing 7
- 蛋白别名
- Sterile alpha motif domain-containing protein 7; SAM domain-containing protein 7
- 靶点基因名
- SAMD7
- UniProt
- Q7Z3H4
- 来源物种
- Homo sapiens (Human)
- 物种反应性
- Human
背景介绍
Sterile alpha motif domain containing 7 (SAMD7) is a nuclear protein that functions as a DNA-binding transcriptional repressor specifically in rod photoreceptors. It is a key component of a Polycomb group PRC1-like complex, where it facilitates epigenetic silencing of non-rod genes by promoting repressive histone marks such as H3K27me3 and H2AK119ub. This activity is essential for establishing and maintaining rod photoreceptor identity and function. SAMD7 expression is highly enriched in the retina and is directly regulated by the photoreceptor-specific transcription factor CRX. Clinically, SAMD7 is implicated in inherited retinal diseases. Pathogenic variants in the SAMD7 gene are associated with macular dystrophy, which may occur with or without cone dysfunction, as well as hereditary keratitis and broader forms of macular degeneration.