GORAB Antibody

1. Novel compound heterozygous nonsense mutations were identified in the GORAB gene of a geroderma osteodysplastica patient. PMID: 28807865
2. in the present study a de novo deletion on 1q23.3-q24.2 combined with a GORAB missense mutation leads to a distinctive phenotype with features from Gerodermia osteodysplastica and also short stature, cutis laxa, frequent fractures, facial dysmorphism, cup-shaped ears and intellectual disability PMID: 27604556
3. SCYL1- BP1 affects the cell cycle through increasing steady state levels of Cyclin F and RRM2 proteins, thus constituting a dual regulatory circuit PMID: 25980818
4. SCYL1-BP1 plays a critical role in the regulation of EEA1, BMPR2 and BRCA2 expression. PMID: 25234469
5. SCYL1BP1 can promote the degradation of MDM2 protein and further inhibit the G1/S transition of lung SCC lines. Reintroduction of SCYL1BP1 into lung SCC lines significantly inhibited cell proliferation, migration, invasion and tumor formation. PMID: 25227860
6. Data suggest that SCYL1-BP1 is a novel regulator of the MDM2-p53 feedback loop and that it may be a potential tumor suppressor. PMID: 20849854
7. The chemotaxis signal pathway induced by chemokines CKbeta8 and CKbeta8-1 is mediated via the Gi/Go protein, phospholipase C (PLC) and protein kinase C delta (PKC delta). PMID: 19951712
8. study supplements the limited available data on SCYL1BP1 and further establishes deficiency of this recently described golgin as the only known cause of geroderma osteodysplastica PMID: 19681135
9. assessment of interaction with hPirh2 PMID: 15781263
10. Study demonstrates that gerodermia osteodysplastica is caused by loss-of-function mutations in SCYL1BP1, which is highly expressed in skin and osteoblasts. PMID: 18997784

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HGNC: 25676

OMIM: 231070

KEGG: hsa:92344

STRING: 9606.ENSP00000356737

UniGene: Hs.183702