OFD1 Rabbit Polyclonal Antibody

Specifications

Product Data
Applications	IHC, WB
Recommend Dilution	WB:1:1000-1:10000
Reactivity	Human
Host	Rabbit
Clonality	Polyclonal
Immunogen	Recombinant fragment corresponding to a region within amino acids 136 and 417 of OFD1 (Uniprot ID#O75665)
Isotype	IgG
Formulation	1XPBS, 20% Glycerol (pH7). 0.025% ProClin 300 was added as a preservative.
Concentration	lot specific
Purification	Purified by antigen-affinity chromatography.
Conjugation	Unconjugated
Storage Condition	Store at -20°C as received.
Predicted Protein Size	117 kDa
Gene Name	OFD1, centriole and centriolar satellite protein
Database Link	NP_003602 Entrez Gene 8481 Human UniProt ID O75665
Background	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]
Synonyms	71-7A; CXorf5; JBTS10; RP23; SGBS2
Reference Data
Protein Families	Druggable Genome

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