OFD1 Rabbit anti-Human, Polyclonal, Proteintech

Beschreibung

This antibody recognize all the isoforms of OFD1. The 43 kDa is isoform 2. The ∽80 kDa band is unknown.

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.