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VAPB

MIM.605704 Chr.20

VAMP-associated protein B, vesicle associated membrane protein-associated protein

 

SNAREs are compartmentally specific, cytoplasmically oriented integral membrane proteins involved in the fusion of membranes and the transport of intracellular proteins.

Recognition of vesicles and target membranes is mediated by v-SNAREs and t-SNAREs.

Pathology

-  germline mutations in late-onset spinal muscular atrophy (#15372378#)
-  germline mutations in amyotrophic lateral sclerosis (#15372378#)

See also

-  motor neuron diseases (MNDs)



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