Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

DCC-interacting protein 13-alpha

The gene APPL1 encodes a protein involved tin signal tranduction from insulin and its receptor. It triggers various intracellular metabolic functions. Mutations cause autosomal dominant type 2 diabetes, MODY 14.

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

Related Diseases:

MODY14 diabetes
APPL1

References:

1.

Prudente S et. al. (2015) Loss-of-Function Mutations in APPL1 in Familial Diabetes Mellitus.

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2.

Miaczynska M et. al. (2004) APPL proteins link Rab5 to nuclear signal transduction via an endosomal compartment.

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3.

Mitsuuchi Y et. al. (1999) Identification of a chromosome 3p14.3-21.1 gene, APPL, encoding an adaptor molecule that interacts with the oncoprotein-serine/threonine kinase AKT2.

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4.

Schenck A et. al. (2008) The endosomal protein Appl1 mediates Akt substrate specificity and cell survival in vertebrate development.

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Update: Sept. 26, 2018