STAMBP

Chr 2AR

STAM binding protein

Also known as: AMSH, MICCAP

NCBI Gene: 10617 ENSG00000124356 UniProt: O95630 OMIM: 606247

STAMBP encodes a zinc metalloprotease that cleaves specific polyubiquitin chains and regulates endosomal sorting of cell surface receptors to lysosomes, playing key roles in cytokine signaling, BMP signaling, and receptor-mediated endocytosis. Autosomal recessive mutations cause microcephaly-capillary malformation syndrome, affecting brain development and vascular formation. The gene shows low constraint to loss-of-function variation (pLI 0.00005), consistent with its recessive inheritance pattern.

GeneReviews OMIM ResearchSummary from RefSeq, OMIM, UniProt

Cytokine-mediated signal transduction in the JAK-STAT cascade requires the involvement of adaptor molecules. One such signal-transducing adaptor molecule contains an SH3 domain that is required for induction of MYC and cell growth. The protein encoded by this gene binds to the SH3 domain of the signal-transducing adaptor molecule, and plays a critical role in cytokine-mediated signaling for MYC induction and cell cycle progression. Multiple alternatively spliced transcript variants encoding the same protein isoform have been found for this gene. [provided by RefSeq, Jul 2008]

GeneReviews OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Microcephaly-capillary malformation syndromeMIM #614261

Clinical highlights

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype), though the gene is not strongly LoF-constrained in the population — weigh truncating variants against that tolerance.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.76

LOEUF

LOF

Mechanism· G2P

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GeneReview available — STAMBP