Rabbit anti-Human, Mouse IFT122 Polyclonal Antibody | anti-IFT122 antibody
IFT122 Rabbit Polyclonal
Immunogen Affinity Purified
Immunogen Affinity Purified
NCBI and Uniprot Product Information
NCBI Description
This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. This cytoplasmic protein contains seven WD repeats and an AF-2 domain which function by recruiting coregulatory molecules and in transcriptional activation. Mutations in this gene cause cranioectodermal dysplasia-1. A related pseudogene is located on chromosome 3. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2013]
Uniprot Description
IFT122: Required for cilia formation and Shh signaling during neuronal patterning. Defects in IFT122 are a cause of cranioectodermal dysplasia type 1 (CED1). CED1 is a disorder characterized by craniofacial, skeletal and ectodermal abnormalities. Clinical features include dolichocephaly (with or without sagittal suture synostosis), scaphocephaly, short stature, limb shortening, short ribs, narrow chest, brachydactyly, renal failure and hepatic fibrosis, small and abnormally shaped teeth, sparse hair, skin laxity and abnormal nails. 4 isoforms of the human protein are produced by alternative splicing.
Chromosomal Location of Human Ortholog: 3q21
Cellular Component: cilium; membrane; photoreceptor connecting cilium
Molecular Function: protein binding
Biological Process: camera-type eye morphogenesis; embryonic body morphogenesis; embryonic heart tube development; limb development; negative regulation of smoothened signaling pathway; neural tube closure
Disease: Cranioectodermal Dysplasia 1
Research Articles on IFT122
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Product Notes
The IFT122 ift122 (Catalog #AAA7600386) is an Antibody produced from Rabbit and is intended for research purposes only. The product is available for immediate purchase. The IFT122 Rabbit Polyclonal reacts with Human, Mouse and may cross-react with other species as described in the data sheet. AAA Biotech's IFT122 can be used in a range of immunoassay formats including, but not limited to, ELISA (EIA), Western Blot (WB), Immunohistochemistry (IHC). Researchers should empirically determine the suitability of the IFT122 ift122 for an application not listed in the data sheet. Researchers commonly develop new applications and it is an integral, important part of the investigative research process. It is sometimes possible for the material contained within the vial of "IFT122, Polyclonal Antibody" to become dispersed throughout the inside of the vial, particularly around the seal of said vial, during shipment and storage. We always suggest centrifuging these vials to consolidate all of the liquid away from the lid and to the bottom of the vial prior to opening. Please be advised that certain products may require dry ice for shipping and that, if this is the case, an additional dry ice fee may also be required.Precautions
All products in the AAA Biotech catalog are strictly for research-use only, and are absolutely not suitable for use in any sort of medical, therapeutic, prophylactic, in-vivo, or diagnostic capacity. By purchasing a product from AAA Biotech, you are explicitly certifying that said products will be properly tested and used in line with industry standard. AAA Biotech and its authorized distribution partners reserve the right to refuse to fulfill any order if we have any indication that a purchaser may be intending to use a product outside of our accepted criteria.Disclaimer
Though we do strive to guarantee the information represented in this datasheet, AAA Biotech cannot be held responsible for any oversights or imprecisions. AAA Biotech reserves the right to adjust any aspect of this datasheet at any time and without notice. It is the responsibility of the customer to inform AAA Biotech of any product performance issues observed or experienced within 30 days of receipt of said product. To see additional details on this or any of our other policies, please see our Terms & Conditions page.Item has been added to Shopping Cart
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