Antibody Protein ELISA Kit from MyBioSource header Telephone 1.858.633.0165          
1.855.MyBioSource
Fax 1.858.633.0166    Email sales@mybiosource.com 
tel/fax
menu1 Home Products Ordering Company Help menu7
bottom
   MyBioSource  rightarrow Protein Family  rightarrow Oral-facial-digital syndrome 1 protein  rightarrow LOG IN  rightarrow MY ACCOUNT  rightarrow CART CONTENTS  rightarrow CHECKOUT 
horiz bar
MyBioSource Menu separator
separator
ELISA Kit ELISA Kit
CLIA Kit CLIA Kit
PCR Kit PCR Kit
Monoclonal Antibody Monoclonal Antibody
Polyclonal Antibody Polyclonal Antibody
Secondary Antibody Secondary Antibody
Antigen Antigen
Biochemical Biochemical
cDNA Clone cDNA Clone
siRNA siRNA
Peptide Peptide
Recombinant/Purified Protein Rec./Purified Protein

Custom ELISA Kit Custom ELISA Kit
Custom Protein Custom Protein
Custom Antibody Custom Antibody
Antibody Matched Pairs Antibody Matched Pairs
Antibody & Corresponding Blocking Peptide Pairs Antibody Peptide Pairs
Phospho-Specific Antibodies Phospho Antibodies
Products by Disease Products by Disease
Products by Pathway Products by Pathway
Products by Tissue Products by Tissue

arrow Advanced Search
arrow Submit Technical Q&A
arrow International Distributors
arrow Contact Us
separator
Our Best Sellers moreseparator
separator
 • CD30 Antibody
 • Astacin-like metalloendopeptidase (ASTL) ELISA Kit
 • CCR5 Antibody
 • Adenovirus Antibody
 • ZNF354A Antibody
 • L-glutamate Antibody
 • ProstacyclinPGI2 ELISA Kit
 • C-X-C chemokine receptor type 4 (CXCR4) Recombinant Protein
 • AATF siRNA
 • Collagen Type I (COL1A1) Antibody
 • PAI-1 (wild type latent form) (SERPINE1) Protein
 • Activin A Receptor Antibody (ACV-R) ELISA Kit
 • beta2-Glycoprotein 1antibody IgM (beta2-GP1 Ab IgM) ELISA Kit
 • Dynein light chain 1, cytoplasmic (DYNLL1) Recombinant Protein
 downarrow more ...
separator

Oral-facial-digital syndrome 1 protein

separator
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. Only OFD1 localized at the centriolar satellites is removed by autophagy, which is an important step in the ciliogenesis regulation (By similarity).

Below are the list of possible Oral-facial-digital syndrome 1 protein products. If you cannot find the target and/or product is not available in our catalog, please click here to contact us and request the product or submit your request for custom elisa kit production, custom recombinant protein production or custom antibody production. Custom ELISA Kits, Recombinant Proteins and Antibodies can be designed, manufactured and produced according to the researcher's specifications.
 

Oral-facial-digital syndrome 1 protein

 Oral-facial-digital syndrome 1 protein ELISA Kit
 Oral-facial-digital syndrome 1 protein Recombinant
 Oral-facial-digital syndrome 1 protein Antibody
Also known as Oral-facial-digital syndrome 1 protein (Protein 71-7A).
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 cel
>>>
ls 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; centrosome; cilium; cytosol; membrane; microtubule cytoskeleton

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

Biological Process: centriole replication; G2/M transition of mitotic cell cycle; mitosis

Disease: Joubert Syndrome 10; Orofaciodigital Syndrome I; Retinitis Pigmentosa 23; Simpson-golabi-behmel Syndrome, Type 2
 OFD1 ELISA Kit
 OFD1 Recombinant
 OFD1 Antibody
 CXorf5 ELISA Kit
 CXorf5 Recombinant
 CXorf5 Antibody
Table BarTOPTable Bar
 

Oral-facial-digital syndrome 1 protein homolog

 Oral-facial-digital syndrome 1 protein homolog ELISA Kit
 Oral-facial-digital syndrome 1 protein homolog Recombinant
 Oral-facial-digital syndrome 1 protein homolog Antibody
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 hom
>>>
eostasis. 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

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

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

Biological Process: axoneme biogenesis; centriole replication; embryonic body morphogenesis; mitosis
 Ofd1 ELISA Kit
 Ofd1 Recombinant
 Ofd1 Antibody
Table BarTOPTable Bar
Proteins Root Name Listing
horiz bar
 SSL   Follow us on Facebook Follow us onTwitter Follow us on Google Plus Connect us on LinkedIn Subscribe to our RSS Feed for latest products and special promotions