2017-5-4
英文名称 Anti-C7orf53
中文名称 7号染色体开放阅读框53抗体
别 名 C7orf53; CG053_HUMAN; Chromosome 7 open reading frame 53; Coiled-coil domain-containing transmembrane protein C7orf53.
详细介绍:
相关资料:
产品介绍 Chromosome 7 has been linked to Osteogenesis imperfecta, Pendred syndrome, Lissencephaly, Citrullinemia and Shwachman-Diamond syndrome. The deletion of a portion of the q arm of chromosome 7 is associated with Williams-Beuren syndrome, a condition characterized by mild mental retardation, an unusual comfort and friendliness with strangers and an elfin appearance. Deletions of portions of the q arm of chromosome 7 are also seen in a number of myeloid disorders including cases of acute myelogenous leukemia and myelodysplasia. The C7orf53 gene product has been provisionally designated C7orf53 pending further characterization.
Subcellular Location : Membrane; Single-pass membrane protein (Potential).
Database links : UniProtKB/Swiss-Prot: Q8N8F7.1
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