NP_001161235.1
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NCBI GenBank Nucleotide #
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UniProt Primary Accession #
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UniProt Secondary Accession #
UniProt Related Accession #
Molecular Weight
134,869 Da
NCBI Official Full Name
intraflagellar transport protein 122 homolog isoform 2
NCBI Official Synonym Full Names
intraflagellar transport 122
NCBI Protein Information
intraflagellar transport protein 122 homolog
UniProt Protein Name
Intraflagellar transport protein 122 homolog
UniProt Synonym Protein Names
WD repeat-containing protein 10
UniProt Synonym Gene Names
UniProt Entry Name
IF122_MOUSE
UniProt Comments for IFT122
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.
Cellular Component: cytoskeleton; cell projection; membrane; cell; cytoplasm; intracellular; photoreceptor connecting cilium; cilium
Biological Process: limb development; embryonic forelimb morphogenesis; multicellular organismal development; signal transduction downstream of smoothened; embryonic body morphogenesis; camera-type eye morphogenesis; dorsal/ventral pattern formation; cell projection organization and biogenesis; negative regulation of smoothened signaling pathway; neural tube closure; embryonic heart tube development; cilium biogenesis; embryonic digit morphogenesis; negative regulation of smoothened signaling pathway in ventral spinal cord patterning; negative regulation of epithelial cell proliferation
Research Articles on IFT122
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Products associated with IFT122 sirna
Pathways associated with IFT122 sirna
Diseases associated with IFT122 sirna
Organs/Tissues associated with IFT122 sirna
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