BC096344
[Other Products]
UniProt Secondary Accession #
UniProt Related Accession #
Molecular Weight
111,745 Da
NCBI Official Full Name
Homo sapiens oral-facial-digital syndrome 1, mRNA
NCBI Official Synonym Full Names
OFD1, centriole and centriolar satellite protein
NCBI Official Synonym Symbols
RP23; 71-7A; SGBS2; CXorf5; JBTS10 [Similar Products]
NCBI Protein Information
oral-facial-digital syndrome 1 protein
UniProt Protein Name
Oral-facial-digital syndrome 1 protein
UniProt Synonym Protein Names
Protein 71-7A
UniProt Synonym Gene Names
UniProt Entry Name
OFD1_HUMAN
NCBI Summary for OFD1
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]
UniProt Comments for OFD1
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; 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
Research Articles on OFD1
Precautions
All of MyBioSource's Products are for scientific laboratory research purposes and are not for diagnostic, therapeutics, prophylactic or in vivo use. Through your purchase, you expressly represent and warrant to MyBioSource that you will properly test and use any Products purchased from MyBioSource in accordance with industry standards. MyBioSource and its authorized distributors reserve the right to refuse to process any order where we reasonably believe that the intended use will fall outside of our acceptable guidelines.
Disclaimer
While every efforts were made to ensure the accuracy of the information provided in this datasheet, MyBioSource will not be liable for any omissions or errors contained herein. MyBioSource reserves the right to make changes to this datasheet at any time without prior notice. It is the responsibility of the customer to report product performance issues to MyBioSource within 30 days of receipt of the product. Please visit our Terms & Conditions page for more information.
Pathways associated with OFD1 cdna clone
Diseases associated with OFD1 cdna clone
Organs/Tissues associated with OFD1 cdna clone
|