IFT140 Antibody, HRP conjugated

Code CSB-PA842756LB01HU
Size US$166
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Product Details

Full Product Name
Rabbit anti-Homo sapiens (Human) IFT140 Polyclonal antibody
Uniprot No.
Target Names
IFT140
Alternative Names
IFT140 antibody; KIAA0590 antibody; WDTC2 antibody; Intraflagellar transport protein 140 homolog antibody; WD and tetratricopeptide repeats protein 2 antibody
Raised in
Rabbit
Species Reactivity
Human
Immunogen
Recombinant Human Intraflagellar transport protein 140 homolog protein (1291-1462AA)
Immunogen Species
Homo sapiens (Human)
Conjugate
HRP
Clonality
Polyclonal
Isotype
IgG
Purification Method
>95%, Protein G purified
Concentration
It differs from different batches. Please contact us to confirm it.
Buffer
Preservative: 0.03% Proclin 300
Constituents: 50% Glycerol, 0.01M PBS, pH 7.4
Form
Liquid
Tested Applications
ELISA
Protocols
Troubleshooting and FAQs
Storage
Upon receipt, store at -20°C or -80°C. Avoid repeated freeze.
Lead Time
Basically, we can dispatch the products out in 1-3 working days after receiving your orders. Delivery time maybe differs from different purchasing way or location, please kindly consult your local distributors for specific delivery time.

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Target Background

Function
Component of the IFT complex A (IFT-A), a complex required for retrograde ciliary transport and entry into cilia of G protein-coupled receptors (GPCRs). Plays a pivotal role in proper development and function of ciliated cells through its role in ciliogenesis and/or cilium maintenance. Required for the development and maintenance of the outer segments of rod and cone photoreceptor cells. Plays a role in maintenance and the delivery of opsin to the outer segment of photoreceptor cells.
Gene References into Functions
  1. A maternally inherited homozygous biallelic mutation altering the exon 6 splice donor site in IFT140 gene causes Mainzer-Saldino syndrome. PMID: 28724397
  2. We provide the first description of an Opitz trigonocephaly C syndrome (OTCS) phenotype that appears to result from IFT140 mutations. The presentation of this patient is consistent with previous reports showing that OTCS already exhibited skeleletal and nonskeletal features of a ciliopathy PMID: 27874174
  3. Recessive IFT140 mutations cause a severe congenital retinal dystrophy with high hyperopia and often early photophilia. Developmental delay is common but not universal and not all patients have obvious extraocular findings. PMID: 26359340
  4. This study highlights the phenotype of nonsyndromic RP due to mutations in IFT140 with milder retinal dystrophy than that associated with the syndromic disease. PMID: 26968735
  5. Identification of IFT140 variants in multiple unrelated non-syndromic Leber congenital amaurosis and retinitis pigmentosa. PMID: 26216056
  6. Genetic analysis revealed both to harbor recessive mutations in IFT140, a cilium gene recently associated with the skeletal ciliopathy conorenal syndrome. PMID: 24698627
  7. present study strengthens the rationale for IFT140 screening in skeletal ciliopathy spectrum patients that have kidney disease and/or retinal dystrophy PMID: 23418020
  8. IFT140 mutations were identified in Mainzer-Saldino syndrome. IFT140 plays a role in proper development and function of ciliated cells. PMID: 22503633
  9. loss of Ift140 causes pronounced renal cystic disease and suggest that abnormalities in several different pathways may influence cyst progression. PMID: 22282595

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Involvement in disease
Short-rib thoracic dysplasia 9 with or without polydactyly (SRTD9)
Subcellular Location
Cytoplasm, cytoskeleton, cilium basal body. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Cell projection, cilium.
Database Links

HGNC: 29077

OMIM: 266920

KEGG: hsa:9742

STRING: 9606.ENSP00000406012

UniGene: Hs.389438

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