Overview
| 别名 | Orofacial cleft 1 candidate gene 1 protein; Orofacial clefting chromosomal breakpoint region candidate 1 protein |
| 基因名 | OFCC1 |
| UniProt ID | Q8IZS5 |
| 反应种属 | Human |
| 应用 | WB |
| 宿主 | Mouse |
| 偶联物 | Unconjugated |
| 修饰 | Unmodified |
| 亚型 | IgG2a |
| 克隆号 | 8L1-F8-S1 |
| 克隆性 | Monoclonal Antibody |
| 分子量 | Calculated MW: 26 kDa |
| 纯化方式 | Affinity Purified |
| 产品形式 | Liquid |
| 推荐稀释比 | WB-1:1000 |
| 存储缓冲液 | Liquid in PBS containing 50% glycerol, 0.5% BSA and 0.09% sodium azide |
| 保存温度 | Store at 4°C short term. Aliquot and store at -20°C long term. Avoid freeze/thaw cycles. |
| 背景信息 | Orofacial cleft 1 candidate 1 (pseudogene) (OFCC1) is annotated as a non-coding pseudogene in humans, located on chromosome 6p24. While orthologs in other vertebrates are protein-coding and localize to the cytoskeleton and endoplasmic reticulum, the human locus is primarily characterized by its genetic associations. Variants in the 6p24 region have been identified as candidates for orofacial clefting, suggesting a role in craniofacial development susceptibility through regulatory or non-coding mechanisms. Furthermore, specific OFCC1 variants have been linked to neurodevelopmental conditions, including Tourette syndrome and chronic tic disorders. Although mouse models show normal skull morphology, the human locus remains clinically relevant due to its established associations with developmental and neurological pathologies. |
检测原理