Overview
- SupplierGeneTex
- Product NameOFD1 antibody
- Delivery Days Customer9
- CertificationResearch Use Only
- Concentration1.21 mg/ml
- IsotypeIgG
- Scientific DescriptionThis 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. Alternatively spliced transcripts have been described for this gene but the biological validity of these transcripts has not been determined. [provided by RefSeq]
- Storage Instruction2°C to 8°C,-20°C
- UNSPSC12352203
References
- Distinct Roles of TRAPPC8 and TRAPPC12 in Ciliogenesis via Their Interactions With OFD1. Zhang C et al., 2020, Front Cell Dev BiolRead more