人 OFCC1 抗体对
01AB02237
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.
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技术参数
- 靶点基因名
- OFCC1
- 基因别名
- MRDS1
- 蛋白别名
- orofacial cleft 1 candidate 1 (pseudogene); OFCC1
- UniProt
- Q8IZS5
- 物种
- Human
产品详情
- 靶点名称
- OFCC1
- 蛋白名称
- orofacial cleft 1 candidate 1 (pseudogene)
- 蛋白别名
- Orofacial cleft 1 candidate gene 1 protein; Orofacial clefting chromosomal breakpoint region candidate 1 protein
- 靶点基因名
- OFCC1
- 基因别名
- MRDS1
- UniProt
- Q8IZS5
- 来源物种
- Homo sapiens (Human)
- 物种反应性
- Human
背景介绍
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.