Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
The NTF4 gene encodes a protein, neurotrophin 4, that is involved in differentiation and survival of neurons. Mutations cause autosomal dominant glaucoma 1O.
| Clinic | Method | Carrier testing |
| Turnaround | 5 days | |
| Specimen type | genomic DNA |
| Clinic | Method | Massive parallel sequencing |
| Turnaround | 25 days | |
| Specimen type | genomic DNA |
| Clinic | Method | Genomic sequencing of the entire coding region |
| Turnaround | 25 days | |
| Specimen type | genomic DNA |
| 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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| 11. |
Wikipedia article Wikipedia EN (Neurotrophin-4)
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