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Protein Page:

IFT140 Plays a pivotal role in proper development and function of ciliated cells. Involved in ciliogenesis and cilia maintenance. Defects in IFT140 are the cause of Mainzer-Saldino syndrome (MZSDS). MZSDS is a rare autosomal recessive disease characterized by phalangeal cone- shaped epiphyses, chronic renal disease, nearly constant retinal dystrophy, and mild radiographic abnormality of the proximal femur. Occasional features include short stature, cerebellar ataxia, and hepatic fibrosis. Note: This description may include information from UniProtKB.
Protein type: Adaptor/scaffold
Chromosomal Location of Human Ortholog: 16p13.3
Cellular Component: axoneme; centrosome; cilium; cytoplasm; photoreceptor connecting cilium; photoreceptor outer segment
Molecular Function: protein binding
Biological Process: determination of left/right symmetry; embryonic camera-type eye development; embryonic cranial skeleton morphogenesis; embryonic digit morphogenesis; heart development; neural tube patterning; regulation of smoothened signaling pathway; retina development in camera-type eye; skeletal morphogenesis
Disease: Short-rib Thoracic Dysplasia 9 With Or Without Polydactyly
Reference #:  Q96RY7 (UniProtKB)
Alt. Names/Synonyms: c305C8.4; c380F5.1; DKFZp564L232; FLJ10306; FLJ30571; gs114; IF140; IFT140; intraflagellar transport 140 homolog (Chlamydomonas); Intraflagellar transport protein 140 homolog; KIAA0590; WD and tetratricopeptide repeats 2; WD and tetratricopeptide repeats protein 2; WDTC2
Gene Symbols: IFT140
Molecular weight: 165,193 Da
Basal Isoelectric point: 5.69  Predict pI for various phosphorylation states
Select Structure to View Below


Protein Structure Not Found.

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