SH3GLB1

Chr 1

SH3 domain containing GRB2 like, endophilin B1

Also known as: Bif-1, CGI-61, PPP1R70, dJ612B15.2

NCBI Gene: 51100 ENSG00000097033 UniProt: Q9Y371

The protein regulates mitochondrial membrane dynamics, autophagy, and apoptotic signaling pathways, and is involved in membrane trafficking and cytokinesis. Mutations cause autosomal recessive spastic paraplegia with childhood onset, characterized by progressive spasticity primarily affecting the lower limbs and intellectual disability. The gene shows significant constraint against loss-of-function variants, suggesting that complete loss of protein function is not well tolerated.

ResearchSummary from RefSeq, UniProt

This gene encodes a SRC homology 3 domain-containing protein. The encoded protein interacts with the proapoptotic member of the Bcl-2 family, Bcl-2-associated X protein (Bax) and may be involved in regulating apoptotic signaling pathways. This protein may also be involved in maintaining mitochondrial morphology. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2011]

ResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.24

LOEUF· LoF intol.

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Mechanism

Some data sources returned errors (1)

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