Overview

  • Product nameAnti-OFD1 antibodySee all OFD1 primary antibodies ...
  • Description
    Rabbit polyclonal to OFD1
  • Tested applicationsWB more details
  • Species reactivity
    Reacts with: Human
  • Immunogen

    Recombinant protein fragment corresponding to a region within amino acids 136 and 387 of Human OFD1 (NP_003602).

  • Positive control
    • 293T, A431, H1299, HeLa, HepG2, MOLT4 and Raji cell lysates

Properties

Applications

Our Abpromise guarantee covers the use of ab97861 in the following tested applications.

The application notes include recommended starting dilutions; optimal dilutions/concentrations should be determined by the end user.

Application Notes
WB 1/500 - 1/3000. Predicted molecular weight: 117 kDa.

Target

  • FunctionComponent of the centrioles controlling mother and daughter centrioles length. Recruits to the centriole IFT88 and centriole distal appendage-specific proteins including CEP164. Involved in the biogenesis of the cilium, a centriole-associated function. The cilium is a cell surface projection found in many vertebrate cells required to transduce signals important for development and tissue homeostasis. Plays an important role in development by regulating Wnt signaling and the specification of the left-right axis.
  • Tissue specificityWidely expressed. Expressed in 9 and 14 weeks old embryos in metanephric mesenchyme, oral mucosa, lung, heart, nasal and cranial cartilage, and brain. Expressed in metanephros, brain, tongue, and limb.
  • Involvement in diseaseDefects in OFD1 are the cause of oral-facial-digital syndrome type 1 (OFD1) [MIM:311200]. OFD1 is a X-linked dominant condition with lethality in males. The syndrome is characterized by clefts of the jaw and tongue in the area of the lateral incisors and canines. Other features are malformations of the face and skull, malformation of the hands (specifically syndactyly, clinodactyly, brachydactyly and occasionally postaxial polydactyly) and mental retardation. OFD1 also causes polycystic kidney disease.
    Defects in OFD1 are associated with Simpson-Golabi-Behmel syndrome type 2 (SGBS2) [MIM:300209]. SGBS2 is a severe variant of Simpson-Golabi-Behmel syndrome, a condition characterized by pre-and postnatal overgrowth (gigantism), facial dysmorphism and a variety of inconstant visceral and skeletal malformations.
    Defects in OFD1 are the cause of Joubert syndrome type 10 (JBTS10) [MIM:300804]. A disorder presenting with cerebellar ataxia, oculomotor apraxia, hypotonia, neonatal breathing abnormalities and psychomotor delay. Neuroradiologically, it is characterized by cerebellar vermian hypoplasia/aplasia, thickened and reoriented superior cerebellar peduncles, and an abnormally large interpeduncular fossa, giving the appearance of a molar tooth on transaxial slices (molar tooth sign). Additional variable features include retinal dystrophy and renal disease.
  • Sequence similaritiesBelongs to the OFD1 family.
    Contains 1 LisH domain.
  • Cellular localizationCytoplasm > cytoskeleton > centrosome > centriole. Cytoplasm > cytoskeleton > cilium basal body. Nucleus. Localizes to centriole distal ends.
  • Target information above from: UniProt accession O75665 The UniProt Consortium
    The Universal Protein Resource (UniProt) in 2010
    Nucleic Acids Res. 38:D142-D148 (2010) .

    Information by UniProt
  • Database links
  • Alternative names
    • 71 7A antibody
    • 717A antibody
    • CXorf5 antibody
    • JBTS10 antibody
    • Ofd1 antibody
    • OFD1_HUMAN antibody
    • oral facial digital syndrome 1 antibody
    • Oral-facial-digital syndrome 1 protein antibody
    • OTTHUMP00000022941 antibody
    • Protein 71-7A antibody
    • RGD1562231 antibody
    • SGBS2 antibody
    see all

Anti-OFD1 antibody images

  • Anti-OFD1 antibody (ab97861) at 1/5000 dilution + MOLT4 whole cell lysate at 30 µg

    Predicted band size : 117 kDa

References for Anti-OFD1 antibody (ab97861)

ab97861 has not yet been referenced specifically in any publications.

Product Wall

There are currently no Abreviews or Questions for ab97861.
Please use the links above to contact us or submit feedback about this product.

Please note: All products are "FOR RESEARCH USE ONLY AND ARE NOT INTENDED FOR DIAGNOSTIC OR THERAPEUTIC USE"