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.
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Protein Aliases: 71 7A; CXorf5; OFD1; oral facial digital syndrome 1; Oral-facial-digital syndrome 1 protein; Protein 71 7A; Protein 71-7A; SGBS2
Gene Aliases: 71-7A; CXorf5; JBTS10; OFD1; RP23; SGBS2
UniProt ID: (Human) O75665
Entrez Gene ID: (Human) 8481