SSX2IP

Chr 1

SSX family member 2 interacting protein

Also known as: ADIP, hMsd1

NCBI Gene: 117178 ENSG00000117155 UniProt: Q9Y2D8

The protein functions as a centrosome maturation factor and regulator of cell adhesion junctions, maintaining pericentriolar material integrity, promoting proper microtubule nucleation at spindle poles, and playing essential roles in ciliogenesis by recruiting key proteins to cilia. Mutations cause autosomal recessive developmental epileptic encephalopathy with early infantile onset, characterized by severe seizures and developmental delay. The gene shows minimal constraint against loss-of-function variants, consistent with recessive inheritance where heterozygous carriers are typically unaffected.

ResearchSummary from RefSeq, UniProt

This gene encodes a protein that binds the cancer-testis antigen Synovial Sarcoma X breakpoint 2 protein. The encoded protein may regulate the activity of Synovial Sarcoma X breakpoint 2 protein in malignant cells. Alternate splicing results in multiple transcript variants. A pseudogene of this gene is found on chromosome 3. [provided by RefSeq, Oct 2009]

ResearchGenerating clinical summary…

Active trials

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Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.79

LOEUF

Mechanism· predicted

Some data sources returned errors (1)