Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Neurotrophin-4

The NTF4 gene encodes a protein, neurotrophin 4, that is involved in differentiation and survival of neurons. Mutations cause autosomal dominant glaucoma 1O.

Genetests:

Clinic Method Carrier testing
Turnaround 5
Specimen type genomic DNA
Clinic Method Genomic sequencing of the entire coding region
Turnaround 25
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25
Specimen type genomic DNA

Related Diseases:

Open angle glaucoma 1O
NTF4

References:

1.

Ip NY et. al. (1992) Mammalian neurotrophin-4: structure, chromosomal localization, tissue distribution, and receptor specificity.

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2.

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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3.

None (1996) Neurotrophin-4: the odd one out in the neurotrophin family.

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4.

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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5.

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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6.

Deppmann CD et. al. (2008) A model for neuronal competition during development.

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7.

Pasutto F et. al. (2009) Heterozygous NTF4 mutations impairing neurotrophin-4 signaling in patients with primary open-angle glaucoma.

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8.

Liu Y et. al. (2010) No evidence of association of heterozygous NTF4 mutations in patients with primary open-angle glaucoma.

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Update: Sept. 26, 2018