抗人 MAMLD1 抗体对
01AB01521
Mastermind-like domain-containing protein 1 (MAMLD1) is a transcriptional co-activator involved in the regulation of DNA-dependent transcription and male gonad development. It exists in multiple isoforms approximately 80-106 kDa in size and plays a role in transactivating the HES3 promoter independently of canonical NOTCH signaling pathways. MAMLD1 is linked to the Notch-HLH transcription pathway and is a key factor in male sex differentiation. Structurally, it contains a mastermind-like domain typical of transcriptional co-regulators. Mutations in MAMLD1 are primarily associated with X-linked hypospadias type 2, a developmental disorder characterized by abnormal formation of the urethra in males. Research also implicates MAMLD1 mutations in other conditions such as myopathy and spermatic cord torsion, evidencing its role beyond gonadal development.
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技术参数
- 靶点基因名
- MAMLD1
- 基因别名
- CG1; CXorf6
- 蛋白别名
- mastermind like domain containing 1; MAMLD1
- UniProt
- Q13495
- 物种
- Human
产品详情
- 靶点名称
- MAMLD1
- 蛋白名称
- mastermind like domain containing 1
- 蛋白别名
- Mastermind-like domain-containing protein 1; F18; Protein CG1
- 靶点基因名
- MAMLD1
- 基因别名
- CG1; CXorf6
- UniProt
- Q13495
- 来源物种
- Homo sapiens (Human)
- 物种反应性
- Human
背景介绍
Mastermind-like domain-containing protein 1 (MAMLD1) is a transcriptional co-activator involved in the regulation of DNA-dependent transcription and male gonad development. It exists in multiple isoforms approximately 80-106 kDa in size and plays a role in transactivating the HES3 promoter independently of canonical NOTCH signaling pathways. MAMLD1 is linked to the Notch-HLH transcription pathway and is a key factor in male sex differentiation. Structurally, it contains a mastermind-like domain typical of transcriptional co-regulators. Mutations in MAMLD1 are primarily associated with X-linked hypospadias type 2, a developmental disorder characterized by abnormal formation of the urethra in males. Research also implicates MAMLD1 mutations in other conditions such as myopathy and spermatic cord torsion, evidencing its role beyond gonadal development.