Cell Biology Antibodies 13

Anti-OFD1 Antibody (CAB17567)

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SKU:
CAB17567
Product Type:
Antibody
Reactivity:
Human
Reactivity:
Mouse
Host Species:
Rabbit
Isotype:
IgG
Antibody Type:
Polyclonal Antibody
Research Area:
Cell Biology

Description

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Antibody Name:Anti-OFD1 Antibody
Antibody SKU:CAB17567
Antibody Size:20uL, 50uL, 100uL
Application:WB
Reactivity:Human, Mouse
Host Species:Rabbit
Immunogen:Recombinant fusion protein containing a sequence corresponding to amino acids 763-1012 of human OFD1 (NP_003602.1).
Application:WB
Recommended Dilution:WB 1:500 - 1:2000
Reactivity:Human, Mouse
Positive Samples:HeLa, A-549, Mouse testis
Immunogen:Recombinant fusion protein containing a sequence corresponding to amino acids 763-1012 of human OFD1 (NP_003602.1).
Purification Method:Affinity purification
Storage Buffer:Store at -20°C. Avoid freeze / thaw cycles. Buffer: PBS with 0.02% sodium azide, 50% glycerol, pH7.3.
Isotype:IgG
Sequence:PSPC PDRM PLPS PTES RHSL SIPP VSSP PEQK VGLY RRQT ELQD KSEF SDVD KLAF KDNE EFES SFES AGNM PRQL EMGG LSPA GDMS HVDA AAAA VPLS YQHP SVDQ KQIE EQKE EEKI REQQ VKER RQRE ERRQ SNLQ EVLE RERR ELEK LYQE RKMI EESL KIKI KKEL EMEN ELEM SNQE IKDK SAHS ENPL EKYM KIIQ QEQD QESA DKSS KKMV QEGS LVDT LQSS DKVE SLTG FSHE ELDD SW
Gene ID:8481
Uniprot:O75665
Cellular Location:
Calculated MW:42kDa/111kDa/116kDa
Observed MW:117kDa
Anti-OFD1 Antibody (CAB17567)Western blot - OFD1 Polyclonal Antibody (CAB17567)
Synonyms:71-7A, CXorf5, JBTS10, RP23, SGBS2, OFD1
Background: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 Protein Function: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.
UniProt Protein Details:

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

NCBI Summary: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 Code:O75665
NCBI GenInfo Identifier:1055970449
NCBI Gene ID:8481
NCBI Accession:NP_001317138.1
UniProt Secondary Accession:O75665,O75666, Q4VAK4, B9ZVU5,
UniProt Related Accession:O75665
Molecular Weight:
NCBI Full Name:oral-facial-digital syndrome 1 protein isoform 2
NCBI Synonym Full Names:OFD1, centriole and centriolar satellite protein
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
UniProt Synonym Protein Names:Protein 71-7A
Protein Family:Oral-facial-digital syndrome 1 protein
UniProt Gene Name:OFD1  
UniProt Entry Name:OFD1_HUMAN
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