Integrin alpha-3
The ITGA3 gene encodes an alpha integrin protein which is involved in extracellular matrix binding. Mutations cause ausotomal recessive interstitial lung disease with congenital nephrotic syndrome and epidermiolysis bullosa.
Genetests:
Related Diseases:
References:
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Has C et al. (2012) Integrin α3 mutations with kidney, lung, and skin disease.
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Yalcin EG et al. (2015) Crucial role of posttranslational modifications of integrin α3 in interstitial lung disease and nephrotic syndrome.
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Takada Y et al. (1991) Molecular cloning and expression of the cDNA for alpha 3 subunit of human alpha 3 beta 1 (VLA-3), an integrin receptor for fibronectin, laminin, and collagen.
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Tsuji T et al. (1991) Identification of human galactoprotein b3, an oncogenic transformation-induced membrane glycoprotein, as VLA-3 alpha subunit: the primary structure of human integrin alpha 3.
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DiPersio CM et al. (1997) alpha3beta1 Integrin is required for normal development of the epidermal basement membrane.
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Jones SD et al. (1998) Genomic organization of the human alpha 3 integrin subunit gene.
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Dulabon L et al. (2000) Reelin binds alpha3beta1 integrin and inhibits neuronal migration.
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Akula SM et al. (2002) Integrin alpha3beta1 (CD 49c/29) is a cellular receptor for Kaposi's sarcoma-associated herpesvirus (KSHV/HHV-8) entry into the target cells.
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Sanada K et al. (2004) Disabled-1-regulated adhesion of migrating neurons to radial glial fiber contributes to neuronal positioning during early corticogenesis.
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NCBI article
NCBI 3675
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OMIM.ORG article
Omim 605025
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Orphanet article
Orphanet ID 311039
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Wikipedia article
Wikipedia EN (Integrin_alpha_3)
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Update: Aug. 14, 2020