Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
Immunogen sequence: SFEETYDRKL KNELLKYQLE LKDDYIIRTN RLIEDERKNK EKAVHLQEEL IAINSKKEEL NQSVNRVKEL ELELESVKAQ SLAITKQNH
Highest antigen sequence identity to the following orthologs: Mouse - 76%, Rat - 74%.
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.
For Research Use Only. Not for use in diagnostic procedures. Not for resale without express authorization.
Protein Aliases: Centriole and centriolar satellite protein OFD1; Oral-facial-digital syndrome 1 protein; Protein 71-7A
Gene Aliases: 71-7A; CXorf5; JBTS10; OFD1; RP23; SGBS2
UniProt ID: (Human) O75665
Entrez Gene ID: (Human) 8481
If an Invitrogen™ antibody doesn't perform as described on our website or datasheet,we'll replace the product at no cost to you, or provide you with a credit for a future purchase.*
Learn moreGet expert recommendations for common problems or connect directly with an on staff expert for technical assistance related to applications, equipment and general product use.
Contact tech support