OFD1 antibody

GeneTex

OFD1 antibody

9

Western Blot, ImmunoHistoChemistry, ImmunoHistoChemistry Paraffin

Research Use Only

Polyclonal

1.21 mg/ml

Unconjugated

OFD1

OFD1 centriole and centriolar satellite protein

71-7A; CXorf5; JBTS10; Joubert syndrome type 10; oral-facial-digital syndrome 1 protein; protein 71-7A; RP23; SGBS2

Rabbit

IgG

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]

Human, Mouse

2°C to 8°C,-20°C or -80°C

12352203