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Merck

OFD1

oral-facial-digital syndrome 1

Synonyms:
71-7A, CXorf5, JBTS10, RP23, SGBS2
Species:
Human OFD1 (8481), Mouse Ofd1 (237222), Rat Ofd1 (302661), dog OFD1 (480841), domestic cat OFD1 (101092996), Horse OFD1 (100146222), cow OFD1 (526925), sheep OFD1 (101120138), naked mole-rat Ofd1 (101722319), domestic guinea pig Ofd1 (100735055) ...More
UniProtKB ID:
O75665, B9ZVU5, O75666, Q4VAK4
Gene ID:
  • Human(8481) Summary: 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. Alternatively spliced transcripts have been described for this gene but the biological validity of these transcripts has not been determined. [provided by RefSeq, Jul 2008]
  • Mouse(237222) oral-facial-digital syndrome 1 gene homolog (human)
  • Rat(302661) oral-facial-digital syndrome 1
  • dog(480841) oral-facial-digital syndrome 1
  • domestic cat(101092996) oral-facial-digital syndrome 1
  • Horse(100146222) oral-facial-digital syndrome 1
  • cow(526925) oral-facial-digital syndrome 1
  • sheep(101120138) oral-facial-digital syndrome 1
  • naked mole-rat(101722319) oral-facial-digital syndrome 1
  • domestic guinea pig(100735055) oral-facial-digital syndrome 1
  • Zebrafish(327216) oral-facial-digital syndrome 1
  • chicken(418633) oral-facial-digital syndrome 1

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Antibodies

Product Number
Description
Species Reactivity
Application
SAB2702042
Anti-OFD1 antibody produced in rabbit, ,
Species Reactivity
human
Application
immunohistochemistry
western blot