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In yeast and rat, Sec15 is part of a multiprotein complex that is required for targeted exocytosis.[supplied by OMIM, Apr 2004].. De plus, nous expédions EXOC6B Anticorps (25) et et beaucoup plus de produits pour cette protéine.
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Homozygous nonsense variant in EXOC6B identified in two brothers with spondyloepimetaphyseal dysplasia and multiple joint dislocations syndrome.
EXOC6B and the exocyst complex might play an important role in the molecular pathogenesis of intellectual disability.
We report a 2p13.2 microdeletion in 2 subjects encompasing 2 genes, EXOC6B and CYP26B12 with clinical effects on cognitive function, and craniofacial and skeletal development.
Data suggest that the Rabin8-Rab8-Sec15 interaction may couple the activation of Rab8 to the recruitment of the Rab8 effector and is involved in the regulation of vesicular trafficking for primary cilium formation.
TNS3-EXOC6B and EXOC6B-TNS3 fusion transcripts are detected in a premature male newborn with a complex multisystemic phenotype associated with a balanced translocation.
In yeast and rat, Sec15 is part of a multiprotein complex that is required for targeted exocytosis.
exocyst complex component 6B
, SEC15-like 2
, SEC15-like 2-like
, SEC15 homolog B
, SEC15-like protein 2
, exocyst complex component Sec15B