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Please note: We are reviewing Western blot images included in the antibody testing data in our catalog, including those provided by third parties. Unless expressly labeled or annotated as “raw-unedited”, Western blot images included in the antibody testing data in our catalog may have been edited, optimized or otherwise adjusted for presentation.
Antibody detects endogenous levels of total OFD1.
This gene is located on the X chromosome and encodes a centrosomal protein. A knockout mouse model has been used to study the effect of mutations in this gene. The mouse gene is also located on the X chromosome, however, unlike the human gene it is not subject to X inactivation. Mutations in this gene are associated with oral-facial-digital syndrome type I and Simpson-Golabi-Behmel syndrome type 2. Many pseudogenes have been identified; a single pseudogene is found on chromosome 5 while as many as fifteen have been found on the Y chromosome.
仅用于科研。不用于诊断过程。未经明确授权不得转售。
蛋白别名: Centriole and centriolar satellite protein OFD1; oral-facial-digital syndrome 1 gene homolog; Oral-facial-digital syndrome 1 protein; Oral-facial-digital syndrome 1 protein homolog; Protein 71-7A
基因别名: CXorf5; DXGgc7e; OFD1; ORF2; RGD1562231
UniProt ID: (Mouse) Q80Z25
Entrez Gene ID: (Mouse) 237222, (Rat) 302661