Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
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.
| Clinic | Method | Carrier testing |
| Turnaround | 5 days | |
| Specimen type | genomic DNA |
| Clinic | Method | Massive parallel sequencing |
| Turnaround | 25 days | |
| Specimen type | genomic DNA |
| Research | Method | Genomic sequencing of the entire coding region |
| Turnaround | 25 days | |
| Specimen type | genomic DNA |
| 1. |
Has C et al. (2012) Integrin α3 mutations with kidney, lung, and skin disease. 
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| 2. |
Yalcin EG et al. (2015) Crucial role of posttranslational modifications of integrin α3 in interstitial lung disease and nephrotic syndrome.
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| 3. |
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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| 4. |
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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| 5. |
DiPersio CM et al. (1997) alpha3beta1 Integrin is required for normal development of the epidermal basement membrane.
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| 6. |
Jones SD et al. (1998) Genomic organization of the human alpha 3 integrin subunit gene.
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| 7. |
Dulabon L et al. (2000) Reelin binds alpha3beta1 integrin and inhibits neuronal migration.
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| 8. |
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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| 9. |
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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| 10. |
NCBI article NCBI 3675
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| 11. |
OMIM.ORG article Omim 605025
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| 12. |
Orphanet article Orphanet ID 311039
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| 13. |
Wikipedia article Wikipedia EN (Integrin_alpha_3)
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