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:
Related Diseases:
References:
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Prudente S et al. (2015) Loss-of-Function Mutations in APPL1 in Familial Diabetes Mellitus.
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Miaczynska M et al. (2004) APPL proteins link Rab5 to nuclear signal transduction via an endosomal compartment.
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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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Schenck A et al. (2008) The endosomal protein Appl1 mediates Akt substrate specificity and cell survival in vertebrate development.
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Orphanet article
Orphanet ID 436880
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NCBI article
NCBI 26060
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7. |
OMIM.ORG article
Omim 604299
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8. |
Wikipedia article
Wikipedia EN (APPL1)
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Update: Aug. 14, 2020