• gene
  • Isolated SVAS is caused by genetic changes in the elastin gene (ELN) that can be passed from parent to child. (stlouischildrens.org)
  • In children with Williams syndrome , the elastin gene is deleted along with 25-27 other genes that cause developmental delays and hormone problems. (stlouischildrens.org)
  • The elastin gene provides instructions for making a protein called tropoelastin. (stlouischildrens.org)
  • 1. An isolated nucleic acid encoding an endothelial estrogen regulated gene-7 protein that has (i) an amino acid sequence which has at least about 95% sequence similarity with SEQ ID NO: 2 and (ii) lysyl oxidase activity. (google.com)
  • 2. The isolated nucleic acid of claim 1 , wherein the endothelial estrogen regulated gene-7 protein comprises four scavenger receptor cysteine rich (SRCR) domains having an amino acid sequence at least about 95% identical to the amino acid sequences of SEQ ID NOs: 3, 4, 5, and 6. (google.com)
  • 3. The isolated nucleic acid of claim 2 , wherein the endothelial estrogen regulated gene-7 protein comprises four scavenger receptor cysteine rich domains having the amino acid sequences of SEQ ID NOs: 3, 4, 5, and 6. (google.com)
  • 5. The isolated nucleic acid of claim 1 , wherein the endothelial estrogen regulated gene-7 protein has the amino acid sequence of SEQ ID NO: 2. (google.com)
  • 13. The vector of claim 9 , wherein the endothelial estrogen regulated gene-7 protein is expressed in response to estrogen. (google.com)
  • 18. A method for producing endothelial estrogen regulated gene-7 protein, which method comprises isolating the endothelial estrogen regulated gene-7 protein produced by the host cell of claim 14 , wherein the host cell has been cultured under conditions that provide for expression of the endothelial estrogen regulated gene-7 protein by the vector. (google.com)
  • 19. A method for producing endothelial estrogen regulated gene-7 protein, which method comprises isolating the endothelial estrogen regulated gene-7 protein produced by the host cell of claim 15 , wherein the host cell has been cultured under conditions that provide for expression of the endothelial estrogen regulated gene-7 protein by the vector. (google.com)
  • Therefore, the protein encoded by this gene may play a role in vascular development and remodeling. (nih.gov)
  • interaction
  • The invention further relates to an assay system to identify compounds that selectively modulate EER-7 protein activity by interaction with estrogen. (google.com)
  • Essential for elastic fiber formation, is involved in the assembly of continuous elastin (ELN) polymer and promotes the interaction of microfibrils and ELN (PubMed:18185537). (nih.gov)