Also known as SMC2, RAB33B, member RAS oncogene family
Ras-related protein Rab-33B is a protein that in humans is encoded by the RAB33B gene.
This gene encodes a small GTP-binding protein of the Rab GTPase family, whose members function in vesicle transport during protein secretion and endocytosis. Rab GTPases are active, membrane-associated proteins that recruit effector proteins in the GTP-bound state and inactive cytosolic proteins when in a GDP-bound state. The protein encoded by this gene is ubiquitously expressed and has been implicated in Golgi to endoplasmic reticulum cycling of Golgi enzymes. In addition, this protein regulates Golgi homeostasis and coordinates intra-Golgi retrograde trafficking. Allelic variants in this gene have been associated with Dyggve-Melchior-Clausen syndrome and Smith-McCort dysplasia 2, which are autosomal recessive spondyloepimetaphyseal dysplasias characterized by skeletal abnormalities. [provided by RefSeq, Sep 2016].
via MyGene.info
Ras-related protein Rab-33B is a protein that in humans is encoded by the RAB33B gene.
Mutations in this gene have been associated to cases of Dyggve-Melchior-Clausen syndrome.
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Discovered by embedding cosine similarity (sentence-transformers MiniLM, 384-dim).