Segment polarity protein dishevelled homolog DVL-1 is a
protein that in humans is encoded by the DVL1gene.[5][6]
Function
DVL1, the human homolog of the Drosophiladishevelled gene (dsh), encodes a cytoplasmic
phosphoprotein that regulates
cell proliferation, acting as a transducer molecule for developmental processes, including segmentation and
neuroblast specification. DVL1 is a candidate gene for processes involved in cell transformations involved in
neuroblastoma. The
Schwartz–Jampel syndrome and
Charcot–Marie–Tooth disease type 2A have been mapped to the same region as DVL1. The phenotypes of these diseases may be consistent with defects which might be expected from aberrant expression of a DVL gene during development. Three transcript variants encoding three different isoforms have been found for this gene.[6]
^Inobe M, Katsube Ki, Miyagoe Y, Nabeshima Yi, Takeda S (Dec 1999). "Identification of EPS8 as a Dvl1-associated molecule". Biochem. Biophys. Res. Commun. 266 (1): 216–21.
doi:
10.1006/bbrc.1999.1782.
PMID10581192.
Steitz SA, Tsang M, Sussman DJ (1997). "Wnt-mediated relocalization of dishevelled proteins". In Vitro Cell. Dev. Biol. Anim. 32 (7): 441–5.
doi:
10.1007/BF02723007.
PMID8856345.
S2CID20740333.
Bui TD, Beier DR, Jonssen M, Smith K, Dorrington SM, Kaklamanis L, Kearney L, Regan R, Sussman DJ, Harris AL (1997). "cDNA cloning of a human dishevelled DVL-3 gene, mapping to 3q27, and expression in human breast and colon carcinomas". Biochem. Biophys. Res. Commun. 239 (2): 510–6.
doi:
10.1006/bbrc.1997.7500.
PMID9344861.
Segment polarity protein dishevelled homolog DVL-1 is a
protein that in humans is encoded by the DVL1gene.[5][6]
Function
DVL1, the human homolog of the Drosophiladishevelled gene (dsh), encodes a cytoplasmic
phosphoprotein that regulates
cell proliferation, acting as a transducer molecule for developmental processes, including segmentation and
neuroblast specification. DVL1 is a candidate gene for processes involved in cell transformations involved in
neuroblastoma. The
Schwartz–Jampel syndrome and
Charcot–Marie–Tooth disease type 2A have been mapped to the same region as DVL1. The phenotypes of these diseases may be consistent with defects which might be expected from aberrant expression of a DVL gene during development. Three transcript variants encoding three different isoforms have been found for this gene.[6]
^Inobe M, Katsube Ki, Miyagoe Y, Nabeshima Yi, Takeda S (Dec 1999). "Identification of EPS8 as a Dvl1-associated molecule". Biochem. Biophys. Res. Commun. 266 (1): 216–21.
doi:
10.1006/bbrc.1999.1782.
PMID10581192.
Steitz SA, Tsang M, Sussman DJ (1997). "Wnt-mediated relocalization of dishevelled proteins". In Vitro Cell. Dev. Biol. Anim. 32 (7): 441–5.
doi:
10.1007/BF02723007.
PMID8856345.
S2CID20740333.
Bui TD, Beier DR, Jonssen M, Smith K, Dorrington SM, Kaklamanis L, Kearney L, Regan R, Sussman DJ, Harris AL (1997). "cDNA cloning of a human dishevelled DVL-3 gene, mapping to 3q27, and expression in human breast and colon carcinomas". Biochem. Biophys. Res. Commun. 239 (2): 510–6.
doi:
10.1006/bbrc.1997.7500.
PMID9344861.