For Research Use Only. Not for use in diagnostic procedures.

Polyclonal

IgG

Rabbit

>=95% as determined by SDS-PAGE
Immunogen Affinity Purified

Liquid

PBS with 0.02% sodium azide and 50% glycerol pH 7.3, -20 degree C for 24 months (Avoid repeated freeze / thaw cycles.)

Manufactured in an ISO 13485:2003 and EN ISO 13485:2012 Certified Laboratory.

Small volumes of anti-IFT122 antibody vial(s) may occasionally become entrapped in the seal of the product vial during shipment and storage. If necessary, briefly centrifuge the vial on a tabletop centrifuge to dislodge any liquid in the container`s cap. Certain products may require to ship with dry ice and additional dry ice fee may apply.

ELISA (EIA), Western Blot (WB), Immunohistochemistry (IHC)

113,230 Da

intraflagellar transport 122

intraflagellar transport protein 122 homolog

Intraflagellar transport protein 122 homolog

SPG; WDR10; WDR140??[Similar Products]

IF122_HUMAN

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]

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

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