Human intraflagellar transport 122 homolog (Chlamydomonas) ELISA Kit | IFT122 elisa kit
Human Intraflagellar transport protein 122 homolog, IFT122 ELISA Kit
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: membrane; cytoplasm; photoreceptor connecting cilium; cilium
Molecular Function: protein binding
Biological Process: embryonic forelimb morphogenesis; signal transduction downstream of smoothened; limb development; embryonic body morphogenesis; camera-type eye morphogenesis; negative regulation of smoothened signaling pathway; organelle organization and biogenesis; neural tube closure; cilium biogenesis; embryonic heart tube development; embryonic digit morphogenesis; negative regulation of epithelial cell proliferation; negative regulation of smoothened signaling pathway in ventral spinal cord patterning
Disease: Cranioectodermal Dysplasia 1
Research Articles on IFT122
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Product Notes
The Human IFT122 ift122 (Catalog #AAA9328468) is an ELISA Kit and is intended for research purposes only. The product is available for immediate purchase. The AAA9328468 ELISA Kit recognizes Human IFT122. It is sometimes possible for the material contained within the vial of "intraflagellar transport 122 homolog (Chlamydomonas), ELISA Kit" 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
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