Integrin, alpha 8
The ITGA8 gene encodes a heterodimeric transmembrane receptor protein. Mutations cause mostly recessive renal aplasia type 1.
Genetests:
Related Diseases:
References:
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Humbert C et al. (2014) Integrin alpha 8 recessive mutations are responsible for bilateral renal agenesis in humans.
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Müller U et al. (1997) Integrin alpha8beta1 is critically important for epithelial-mesenchymal interactions during kidney morphogenesis.
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3. |
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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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.
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5. |
Orphanet article
Orphanet ID 395065
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6. |
NCBI article
NCBI 8516
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7. |
OMIM.ORG article
Omim 604063
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8. |
Wikipedia article
Wikipedia EN (Integrin_alpha_8)
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Update: Aug. 14, 2020