Rabbit OFD1 Polyclonal Antibody | anti-OFD1 antibody

OFD1 antibody

Cat. Num. AAA837678

• Gene Names: OFD1; RP23; 71-7A; SGBS2; CXorf5; JBTS10
• Applications: Western Blot
• Purity: OFD1 antibody was purified by antigen-affinity chromatography
• Synonyms: OFD1; Polyclonal Antibody; OFD1 antibody; Polyclonal OFD1; Anti-OFD1; OFD 1; OFD-1; MGC117039; oral-facial-digital syndrome 1 protein; CXorf5; SGBS2; JBTS10; MGC117040; 71-7A; anti-OFD1 antibody

• Host: Rabbit
• Clonality: Polyclonal
• Isotype: IgG
• Purity/Purification: OFD1 antibody was purified by antigen-affinity chromatography
• Form/Format: Supplied as a concentrated soloution containing 0.1M Tris, 0.1M Glycine, 10% Glycerol (pH 7.0). 0.01% Thimerosal was added as a preservative.
• Concentration: 0.96 mg/ml (varies by lot)
• Sequence Length: 1012

• Applicable Applications for anti-OFD1 antibody: Western Blot (WB)
• Application Notes: WB: 1:1000-1:10000
• Biological Significance: 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.
• Cross-Reactivity: Human
• Preparation and Storage: Store at 4 degree C for short term storage. Aliquot and store at -20 degree C for long term storage. Avoid repeated freeze/thaw cycles.

Western Blot (WB)

(Western blot analysis of 30 ug of whole cell lysate (A: Molt-4) using a 7.5 % SDS PAGE gel and OFD1 antibody at a dilution of 1:5000)

Related Product Information for anti-OFD1 antibody

Affinity purified Rabbit polyclonal OFD1 antibody

Product Categories/Family for anti-OFD1 antibody

DNA & RNA; Purified Polyclonal Antibodies

NCBI and Uniprot Product Information

• NCBI GI #: 4503179
• NCBI GeneID: 8481
• NCBI Accession #: NP_003602.1
• NCBI GenBank Nucleotide #: NM_003611.2
• UniProt Accession #: O75665; O75666; Q4VAK4; B9ZVU5
• Molecular Weight: 117 kDa
• NCBI Official Full Name: oral-facial-digital syndrome 1 protein
• NCBI Official Synonym Full Names: oral-facial-digital syndrome 1
• 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. Alternatively spliced transcripts have been described for this gene but the biological validity of these transcripts has not been determined. [provided by RefSeq, Jul 2008]

Uniprot Description

OFD1: Component 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. Defects in OFD1 are the cause of oral-facial-digital syndrome type 1 (OFD1). 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). 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). 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. Belongs to the OFD1 family. 3 isoforms of the human protein are produced by alternative splicing.

Protein type: Cell cycle regulation

Chromosomal Location of Human Ortholog: Xp22

Cellular Component: centriole; microtubule cytoskeleton; centrosome; membrane; nucleus; cytosol; cilium

Molecular Function: protein binding; gamma-tubulin binding; alpha-tubulin binding

Biological Process: mitosis; embryonic body morphogenesis; organelle organization and biogenesis; centriole replication; mitotic cell cycle; G2/M transition of mitotic cell cycle; axoneme biogenesis

Disease: Orofaciodigital Syndrome I; Retinitis Pigmentosa 23; Simpson-golabi-behmel Syndrome, Type 2; Joubert Syndrome 10