NP_055529.2
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NCBI GenBank Nucleotide #
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UniProt Secondary Accession #
UniProt Related Accession #
Molecular Weight
Calculated MW: 165kDa Observed MW: 140kDa
NCBI Official Full Name
intraflagellar transport protein 140 homolog
NCBI Official Synonym Full Names
intraflagellar transport 140
NCBI Official Synonym Symbols
MZSDS; SRTD9; WDTC2; gs114; c305C8.4; c380F5.1 [Similar Products]
NCBI Protein Information
intraflagellar transport protein 140 homolog; WD and tetratricopeptide repeats protein 2; intraflagellar transport 140 homolog
UniProt Protein Name
Intraflagellar transport protein 140 homolog
UniProt Synonym Protein Names
WD and tetratricopeptide repeats protein 2
UniProt Synonym Gene Names
UniProt Entry Name
IF140_HUMAN
NCBI Summary for IFT140
This gene encodes one of the subunits of the intraflagellar transport (IFT) complex A. Intraflagellar transport is involved in the genesis, resorption and signaling of primary cilia. The primary cilium is a microtubule-based sensory organelle at the surface of most quiescent mammalian cells, that receives signals from its environment, such as the flow of fluid, light or odors, and transduces those signals to the nucleus. Loss of the corresponding protein in mouse results in renal cystic disease. [provided by RefSeq, Jun 2012]
UniProt Comments for IFT140
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.
Protein type: Adaptor/scaffold
Chromosomal Location of Human Ortholog: 16p13.3
Cellular Component: centrosome; axoneme; photoreceptor connecting cilium
Biological Process: skeletal morphogenesis; retina development in camera-type eye; organelle organization and biogenesis; cilium biogenesis
Disease: Short-rib Thoracic Dysplasia 9 With Or Without Polydactyly
Research Articles on IFT140
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Products associated with anti-IFT140 antibody
Pathways associated with anti-IFT140 antibody
Diseases associated with anti-IFT140 antibody
Organs/Tissues associated with anti-IFT140 antibody
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