Integrin alpha-9
Das ITGA9-Gen kodiert ein alphy-Integrin, welche eine Funktion bei der Zelladhäsion besitzt. Aufgrund seiner Interaktion mit Basalmembranen wird eine Bedeutung der FSGS diskutiert.
Gentests:
Klinisch |
Untersuchungsmethoden |
Familienuntersuchung |
Bearbeitungszeit |
5 Tage |
Probentyp |
genomische DNS |
Verknüpfte Erkrankungen:
Referenzen:
1. |
Gast C et al. (2016) Collagen (COL4A) mutations are the most frequent mutations underlying adult focal segmental glomerulosclerosis.
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2. |
Chatterjee R et al. (2013) Targeted exome sequencing integrated with clinicopathological information reveals novel and rare mutations in atypical, suspected and unknown cases of Alport syndrome or proteinuria.
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3. |
Erle DJ et al. (1991) Novel integrin alpha and beta subunit cDNAs identified in airway epithelial cells and lung leukocytes using the polymerase chain reaction.
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4. |
Palmer EL et al. (1993) Sequence and tissue distribution of the integrin alpha 9 subunit, a novel partner of beta 1 that is widely distributed in epithelia and muscle.
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5. |
Hibi K et al. (1994) Aberrant upregulation of a novel integrin alpha subunit gene at 3p21.3 in small cell lung cancer.
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6. |
Yamakawa K et al. (1993) Frequent homozygous deletions in lung cancer cell lines detected by a DNA marker located at 3p21.3-p22.
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7. |
Daigo Y et al. (1999) Characterization of a 1200-kb genomic segment of chromosome 3p22-p21.3.
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8. |
Staniszewska I et al. (2007) Interaction of alpha9beta1 integrin with thrombospondin-1 promotes angiogenesis.
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9. |
NCBI article
NCBI 3680
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10. |
OMIM.ORG article
Omim 603963
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Update: 14. August 2020