SHCBP1

Chr 16

SHC binding and spindle associated 1

Also known as: PAL

NCBI Gene: 79801 ENSG00000171241 UniProt: Q8NEM2 OMIM: 611027

The SHCBP1 protein enables SH2 domain binding and acts as a positive regulator of fibroblast growth factor signaling in neural progenitor cells, controlling cellular proliferation, growth and differentiation. Currently, no definitive disease associations have been established for SHCBP1 mutations. The gene shows tolerance to loss-of-function variants based on population genetics data.

OMIM ResearchSummary from RefSeq, UniProt

Predicted to enable SH2 domain binding activity. Predicted to be involved in fibroblast growth factor receptor signaling pathway and regulation of neural precursor cell proliferation. Located in midbody and mitotic spindle. [provided by Alliance of Genome Resources, Jun 2026]

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)