Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
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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 days
Specimen type genomic DNA
Clinic Method Genomic sequencing of the entire coding region
Turnaround 25 days
Specimen type genomic DNA

Related Diseases:

Renal hypodysplasia/aplasia 1
DSTYK
ITGA8
PAX2
RET
UPK3A

References:

1.

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

external link
2.

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

external link
3.

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

external link
4.

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.

external link
5.

Orphanet article

Orphanet ID 395065 external link
6.

NCBI article

NCBI 8516 external link
7.

OMIM.ORG article

Omim 604063 external link
8.

Wikipedia article

Wikipedia EN (Integrin_alpha_8) external link
Update: Aug. 14, 2020
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