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Rabbit Anti-TRAPPC2 antibody
The protein encoded by this gene is thought to be part of a large multi-subunit complex involved in the targeting and fusion of endoplasmic reticulum-to-Golgi transport vesicles with their acceptor compartment. In addition, the encoded protein can bind c-myc promoter-binding protein 1 and block its transcriptional repression capability. Mutations in this gene are a cause of spondyloepiphyseal dysplasia tarda (SEDT). A processed pseudogene of this gene is located on chromosome 19, and other pseudogenes are found on chromosomes 8 and Y. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Mar 2010]
Function:
Prevents MBP1-mediated transcriptional repression and antagonizes MBP1-mediated cell death. May play a role in vesicular transport from endoplasmic reticulum to Golgi.
Subcellular Location:
Cytoplasm > perinuclear region. Endoplasmic reticulum. Golgi apparatus. Localized in perinuclear granular structures.
Tissue Specificity:
Widely expressed.
DISEASE:
Defects in TRAPPC2 are the cause of spondyloepiphyseal dysplasia tarda (SEDT) [MIM:313400]. SEDT is an X-linked recessive disorder of endochondral bone formation.
Similarity:
Belongs to the TRAPP small subunits family. Sedlin subfamily.
SWISS:
O14582
Gene ID:
6399
Database links:
Entrez Gene: 6399 Human
Entrez Gene: 66050 Mouse
Entrez Gene: 66226 Mouse
Entrez Gene: 501550 Rat
Omim: 300202 Human
SwissProt: O14582 Human
SwissProt: P0DI81 Human
SwissProt: Q9CQP2 Mouse
Unigene: 592238 Human
Unigene: 622292 Human
Unigene: 279752 Mouse
Unigene: 35693 Mouse
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