STON1

Chr 2

stonin 1

Also known as: SALF, SBLF, STNB1

NCBI Gene: 11037 ENSG00000243244 UniProt: Q9Y6Q2 OMIM: 605357

The STON1 protein is involved in endocytosis, the process by which cells internalize proteins from their surface through specialized molecular machinery at the plasma membrane. This gene is not highly constrained against loss-of-function variants based on population genetics data. Currently, no established Mendelian diseases have been definitively linked to STON1 mutations in clinical practice.

OMIM ResearchSummary from RefSeq, UniProt

Endocytosis of cell surface proteins is mediated by a complex molecular machinery that assembles on the inner surface of the plasma membrane. This gene encodes one of two human homologs of the Drosophila melanogaster stoned B protein. This protein is related to components of the endocytic machinery and exhibits a modular structure consisting of an N-terminal proline-rich domain, a central region of homology specific to the human stoned B-like proteins, and a C-terminal region homologous to the mu subunits of adaptor protein (AP) complexes. Read-through transcription of this gene into the neighboring downstream gene, which encodes TFIIA-alpha/beta-like factor, generates a transcript (SALF), which encodes a fusion protein comprised of sequence sharing identity with each individual gene product. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2010]

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

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LOEUF

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Mechanism

Some data sources returned errors (1)