Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

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:

Clinic Method Carrier testing
Turnaround 5
Specimen type genomic DNA
Research Method Genomic sequencing of the entire coding region
Turnaround 25
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25
Specimen type genomic DNA

Related Diseases:

Interstitial lung disease with nephrotic syndrome and epidermolysis bullosa
ITGA3

References:

1.

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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2.

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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3.

DiPersio CM et. al. (1997) alpha3beta1 Integrin is required for normal development of the epidermal basement membrane.

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4.

Jones SD et. al. (1998) Genomic organization of the human alpha 3 integrin subunit gene.

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5.

Dulabon L et. al. (2000) Reelin binds alpha3beta1 integrin and inhibits neuronal migration.

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6.

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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7.

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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8.

Has C et. al. (2012) Integrin α3 mutations with kidney, lung, and skin disease.

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9.

Yalcin EG et. al. (2015) Crucial role of posttranslational modifications of integrin α3 in interstitial lung disease and nephrotic syndrome.

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Update: Sept. 26, 2018