Rabbit anti-Human, Mouse OFD1 Polyclonal Antibody | anti-OFD1 antibody

Anti-OFD1 Antibody

Cat. Num. AAA1753059

• Gene Names: OFD1; RP23; 71-7A; SGBS2; CXorf5; JBTS10
• Reactivity: Human, Mouse
• Applications: Western Blot, Flow Cytometry
• Purity: Immunogen affinity purified.
• Synonyms: OFD1; Polyclonal Antibody; Anti-OFD1 Antibody; Oral-facial-digital syndrome 1 protein; Protein 71-7A; CXorf5; anti-OFD1 antibody

• Host: Rabbit
• Reactivity: Human, Mouse
• Clonality: Polyclonal
• Isotype: IgG
• Specificity: No cross reactivity with other proteins.
• Purity/Purification: Immunogen affinity purified.
• Form/Format: Lyophilized; Each vial contains 4mg Trehalose, 0.9mg NaCl, 0.2mg Na2HPO4, 0.05mg NaN3.
• Sequence Length: 1012

• Applicable Applications for anti-OFD1 antibody: Western Blot (WB), Flow Cytometry (FC)
• Application Notes: WB: Concentration: 0.25-0.5ug/ml (Tested Species: Human, Mouse); FC: Concentration: 1-3ug/1x10⁶ cells (Tested Species: Human); Tested Species: In-house tested species with positive results.; Other applications have not been tested.; Optimal dilutions should be determined by end users.
• Immunogen: A synthetic peptide corresponding to a sequence of human OFD1 (KDKSAHSENPLEKYMKIIQQEQDQESADK).
• Reconstitution: Add 0.2ml of distilled water will yield a concentration of 500ug/ml.
• Preparation and Storage: Store at -20 degree C for one year. After reconstitution, at 4 degree C for one month. It can also be aliquotted and stored frozen store at -20 degree C for a longer time. Avoid repeated freezing and thawing.

Flow Cytometry (FC/FACS)

Western Blot (WB)

(Figure 1. Western blot analysis of OFD1 using anti-OFD1 antibody.)

Related Product Information for anti-OFD1 antibody

Description: Rabbit IgG polyclonal antibody for OFD1 detection. Tested with WB, FCM in Human;Mouse.

Background: Oral-facial-digital syndrome 1 protein is a protein that in humans is encoded by the OFD1 gene. This gene is mapped to Xp22.2. 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.

References

1. Coene, K. L. M., Roepman, R., Doherty, D., Afroze, B., Kroes, H. Y., Letteboer, S. J. F., Ngu, L. H., Budny, B., van Wijk, E., Gorden, N. T., Azhimi, M., Thauvin-Robinet, C., Veltman, J. A., Boink, M., Kleefstra, T., Cremers, F. P. M., van Bokhoven, H., de Brouwer, A. P. M. OFD1 is mutated in X-linked Joubert syndrome and interacts with LCA5-encoded lebercilin. Am. J. Hum. Genet. 85: 465-481, 2009.
2. Morisawa, T., Yagi, M., Surono, A., Yokoyama, N., Ohmori, M., Terashi, H., Matsuo, M. Novel double-deletion mutations of the OFD1 gene creating multiple novel transcripts. Hum. Genet. 115: 97-103, 2004.
3. Tang, Z., Lin, M. G., Stowe, T. R., Chen, S., Zhu, M., Stearns, T., Franco, B., Zhong, Q. Autophagy promotes primary ciliogenesis by removing OFD1 from centriolar satellites. Nature 502: 254-257, 2013.

NCBI and Uniprot Product Information

• NCBI GI #: 4503179
• NCBI GeneID: 8481
• NCBI Accession #: NP_003602
• NCBI GenBank Nucleotide #: NP_003602.1
• UniProt Accession #: O75665
• NCBI Official Full Name: oral-facial-digital syndrome 1 protein isoform 1
• NCBI Official Synonym Full Names: OFD1 centriole and centriolar satellite protein
• NCBI Official Symbol: OFD1
• NCBI Official Synonym Symbols: RP23; 71-7A; SGBS2; CXorf5; JBTS10
• NCBI Protein Information: oral-facial-digital syndrome 1 protein
• UniProt Protein Name: Oral-facial-digital syndrome 1 protein
• Protein Family: Oral-facial-digital syndrome 1 protein
• UniProt Gene Name: OFD1
• UniProt Synonym Gene Names: CXorf5
• UniProt Entry Name: OFD1_HUMAN

NCBI Description

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. [provided by RefSeq, Aug 2016]