| CFAP53 | |||||||||||||||||||||||||||||||||||||||||||||||||||
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| Identifiers | |||||||||||||||||||||||||||||||||||||||||||||||||||
| Aliases | CFAP53 , CCDC11, HTX6, cilia and flagella associated protein 53 | ||||||||||||||||||||||||||||||||||||||||||||||||||
| External IDs | OMIM: 614759 MGI: 1921703 HomoloGene: 27056 GeneCards: CFAP53 | ||||||||||||||||||||||||||||||||||||||||||||||||||
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| Wikidata | |||||||||||||||||||||||||||||||||||||||||||||||||||
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Cilia and flagella associated protein 53 is a protein that in humans is encoded by the CFAP53 gene. [5]
This gene belongs to the CFAP53 family. It was found to be differentially expressed by the ciliated cells of frog epidermis and in skin fibroblasts from human. Mutations in this gene are associated with visceral heterotaxy-6, which implicates this gene in determination of left-right asymmetric patterning.
Fibrocystin is a large, receptor-like protein that is thought to be involved in the tubulogenesis and/or maintenance of duct-lumen architecture of epithelium. FPC associates with the primary cilia of epithelial cells and co-localizes with the Pkd2 gene product polycystin-2 (PC2), suggesting that these two proteins may function in a common molecular pathway.
Intraflagellar transport protein 20 homolog is a protein that in humans is encoded by the IFT20 gene. The gene is composed of 6 exons and is located on human chromosome 17p11.1. This gene is expressed in human brain, lung, kidney and pancreas, and lower expression were also detected in human placenta, liver, thymus, prostate and testis.
Cilia- and flagella-associated protein 298 is a protein encoded by CFAP298 gene. It is of interest in part for its association with various diseases. It has been found in high levels in the bone marrow of patients with a negative prognosis of acute myeloid leukemia and an abnormal karyotype. Male Alzheimer's patients have shown a decrease in expression of CFAP298 in their blood cells. The CFAP298 gene lies within the critical region of Down Syndrome. There are no clear paralogs in humans, but the gene has homologues widely conserved among animals, fungi, and algae.
Hydrolethalus syndrome protein 1 is a protein that in humans is encoded by the HYLS1 gene.
Coiled-coil and C2 domain-containing protein 2A that in humans is encoded by the CC2D2A gene.
Leucine-rich repeat-containing protein 50 is a protein that in humans is encoded by the LRRC50 gene.
Radial spoke head protein 9 homolog is a protein that in humans is encoded by the RSPH9 gene.
Radial spoke head protein 4 homolog A, also known as radial spoke head-like protein 3, is a protein that in humans is encoded by the RSPH4A gene.
Dynein axonemal intermediate chain 2 also known as axonemal dynein intermediate chain 2, is a protein that in humans is encoded by the DNAI2 gene.
Intraflagellar transport protein 80 homolog (IFT80), also known as WD repeat-containing protein 56, is a protein that in humans is encoded by the IFT80 gene.
ADP-ribosylation factor-like protein 13B (ARL13B), also known as ADP-ribosylation factor-like protein 2-like 1, is a protein that in humans is encoded by the ARL13B gene.
Dynein axonemal light chain 1, (LC1) is a protein that in humans is encoded by the DNAL1 gene.
Kintoun, is a protein that is encoded by the DNAAF2 gene.
Coiled-coil domain containing 8 is a protein that in humans is encoded by the CCDC8 gene.
CCDC40 is the gene in humans that encodes the protein named coiled-coil domain containing 40.
Coiled-coil domain containing 151 is a protein that in humans is encoded by the CCDC151 gene.
Biliverdin reductase A is a protein that in humans is encoded by the BLVRA gene.
Cilia and flagella associated protein 157 (CFAP157) also known as chromosome 9 open reading frame 117 (c9orf117) is a protein that in humans is encoded by the CFAP157 gene.
Cilia and flagella associated protein 74 is a protein that in humans is encoded by the CFAP74 gene.
Cilia- and flagella-associated protein 299 (CFAP299), is a protein that in humans is encoded by the CFAP299 gene. CFAP299 is predicted to play a role in spermatogenesis and cell apoptosis.
This article incorporates text from the United States National Library of Medicine, which is in the public domain.
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