Neurotrophin-4
Das NTF4-Gen kodiert ein Protein, welches bei der Differenzierung und dem Überleben von Neuronen beteiligt ist. Mutationen sind für das autosomal dominante Glaukom 1O verantwortlich.
Gentests:
Klinisch |
Untersuchungsmethoden |
Familienuntersuchung |
Bearbeitungszeit |
5 Tage |
Probentyp |
genomische DNS |
Verknüpfte Erkrankungen:
Referenzen:
1. |
Pasutto F et al. (2009) Heterozygous NTF4 mutations impairing neurotrophin-4 signaling in patients with primary open-angle glaucoma.
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2. |
Liu Y et al. (2010) No evidence of association of heterozygous NTF4 mutations in patients with primary open-angle glaucoma.
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3. |
Ip NY et al. (1992) Mammalian neurotrophin-4: structure, chromosomal localization, tissue distribution, and receptor specificity.
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4. |
Berkemeier LR et al. (1992) Human chromosome 19 contains the neurotrophin-5 gene locus and three related genes that may encode novel acidic neurotrophins.
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5. |
None (1996) Neurotrophin-4: the odd one out in the neurotrophin family.
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6. |
Xie CW et al. (2000) Deficient long-term memory and long-lasting long-term potentiation in mice with a targeted deletion of neurotrophin-4 gene.
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7. |
Robinson LL et al. (2003) The human fetal testis is a site of expression of neurotrophins and their receptors: regulation of the germ cell and peritubular cell population.
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8. |
Deppmann CD et al. (2008) A model for neuronal competition during development.
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9. |
NCBI article
NCBI 4909
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10. |
OMIM.ORG article
Omim 162662
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Update: 14. August 2020