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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 days
Specimen type genomic DNA
Clinic Method Genomic sequencing of the entire coding region
Turnaround 25 days
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.

external link
2.

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

external link
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.

external link
4.

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

external link
5.

Orphanet article

Orphanet ID 436880 external link
6.

NCBI article

NCBI 26060 external link
7.

OMIM.ORG article

Omim 604299 external link
8.

Wikipedia article

Wikipedia EN (APPL1) external link
Update: Aug. 14, 2020
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