Anti-OFD1 antibody (ab106986)

Overview

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

  Synthetic peptide conjugated to KLH, corresponding to internal sequence amino acids 356-386 of Human OFD1 (NP_003602.1).

• Positive controlNCI-H292 cell line lysate

Properties

• FormLiquid
• Storage instructionsStore at 4°C (up to 6 months). For long term storage store at -20°C
• Storage bufferPreservative: 0.09% Sodium Azide
  Constituents: PBS
• Concentration information loading...
• PurityImmunogen affinity purified
• Purification notesab106986 is purified through a protein A column, followed by peptide affinity purification.
• Clonality Polyclonal
• IsotypeIgG
• Research Areas
  • Stem Cells
  • Signaling Pathways
  • Wnt
  • Cytoplasmic

  • Tags & Cell Markers
  • Subcellular Markers
  • Organelles
  • Centrosome

Applications

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
  • Entrez Gene: 8481 Human
  • Entrez Gene: 8481 Human
  • Omim: 300170 Human
  • SwissProt: O75665 Human
  • SwissProt: O75665 Human
  • Unigene: 6483 Human

• Alternative names
  71 7A antibody717A antibodyCXorf5 antibody

  JBTS10 antibodyOfd1 antibodyOFD1_HUMAN antibodyoral facial digital syndrome 1 antibodyOral-facial-digital syndrome 1 protein antibodyOTTHUMP00000022941 antibodyProtein 71-7A antibodyRGD1562231 antibodySGBS2 antibody

  see all