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Rabbit Anti-IFT122 antibody
IFT122 is 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. Alternate transcriptional splice variants, encoding different isoforms, have been characterized.
Function:
Required for cilia formation during neuronal patterning. Acts as a negative regulator of Shh signaling. Required to recruit TULP3 to primary cilia (By similarity).
Subunit:
Component of the IFT complex A (IFT-A) complex.
Subcellular Location:
Cytoplasm. Cell projection, cilium (By similarity). Cytoplasm, cytoskeleton, cilium basal body (By similarity). Note=Localizes to photoreceptor connecting cilia (By similarity).
Tissue Specificity:
Expressed in many tissues. Predominant expression in testis and pituitary.
DISEASE:
Cranioectodermal dysplasia 1 (CED1) [MIM:218330]: 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. Note=The disease is caused by mutations affecting the gene represented in this entry.
Similarity:
Contains 7 WD repeats.
SWISS:
Q9HBG6
Gene ID:
55764
Database links:
Entrez Gene: 55764 Human
Omim: 606045 Human
SwissProt: Q9HBG6 Human
Unigene: 655284 Human
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