Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Integrin, alpha 8

The ITGA8 gene encodes a heterodimeric transmembrane receptor protein. Mutations cause mostly recessive renal aplasia type 1.

Genetests:

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

Related Diseases:

Renal hypodysplasia/aplasia 1
DSTYK
ITGA8
PAX2
RET
UPK3A

References:

1.

Littlewood Evans A et al. (2000) Stereocilia defects in the sensory hair cells of the inner ear in mice deficient in integrin alpha8beta1.

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2.

Humbert C et al. (2014) Integrin alpha 8 recessive mutations are responsible for bilateral renal agenesis in humans.

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3.

Schnapp LM et al. (1995) Sequence and tissue distribution of the human integrin alpha 8 subunit: a beta 1-associated alpha subunit expressed in smooth muscle cells.

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4.

Müller U et al. (1997) Integrin alpha8beta1 is critically important for epithelial-mesenchymal interactions during kidney morphogenesis.

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Update: Sept. 26, 2018