Glomulin 抗体 (YY-Z): sc-100752

Glomulin Antibody (YY-Z) is an IgG₁ κ mouse monoclonal Glomulin antibody (also designated Glomulin antibody) that detects the Glomulin protein of human origin by WB, IP, IF and ELISA. Glomulin Antibody (YY-Z) is available as the non-conjugated anti-Glomulin antibody. Glomuvenous malformations (GVMs) are cutaneous venous lesions characterized by the presence of smooth muscle-like glomus cells in the walls of distended vacular lumens. Complete loss of function of the glomulin gene, which resides within chromosome 1p21-22, results in GVMs. Glomulin, also designated FKBP-associated protein (FAP), exists as two isoforms FAP48 and FAP68. Glomulin is crucial for normal development of the vascular system and plays a role in the differentiation of vascular smooth-muscle cells and vascular morphogenesis. Glomulin is a ubiquitously expressed membrane anchoring protein.

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References:

1. Mutation of FKBP associated protein 48 (FAP48) at proline 219 disrupts the interaction with FKBP12 and FKBP52.  |  Neye, H. 2001. Regul Pept. 97: 147-52. PMID: 11164950
2. Ligand-regulated binding of FAP68 to the hepatocyte growth factor receptor.  |  Grisendi, S., et al. 2001. J Biol Chem. 276: 46632-8. PMID: 11571281
3. Mutations in a novel factor, glomulin, are responsible for glomuvenous malformations (′glomangiomas′).  |  Brouillard, P., et al. 2002. Am J Hum Genet. 70: 866-74. PMID: 11845407
4. The FKBP-associated protein FAP48 is an antiproliferative molecule and a player in T cell activation that increases IL2 synthesis.  |  Krummrei, U., et al. 2003. Proc Natl Acad Sci U S A. 100: 2444-9. PMID: 12604780
5. Glomulin is predominantly expressed in vascular smooth muscle cells in the embryonic and adult mouse.  |  McIntyre, BA., et al. 2004. Gene Expr Patterns. 4: 351-8. PMID: 15053987
6. Glomuvenous malformation (glomangioma) and venous malformation: distinct clinicopathologic and genetic entities.  |  Boon, LM., et al. 2004. Arch Dermatol. 140: 971-6. PMID: 15313813
7. Four common glomulin mutations cause two thirds of glomuvenous malformations (′familial glomangiomas′): evidence for a founder effect.  |  Brouillard, P., et al. 2005. J Med Genet. 42: e13. PMID: 15689436