CAA33627.1
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UniProt Primary Accession #
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UniProt Secondary Accession #
UniProt Related Accession #
Molecular Weight
60,980 Da
NCBI Official Full Name
tropoelastin, partial
NCBI Official Synonym Full Names
elastin
NCBI Protein Information
elastin
UniProt Protein Name
Elastin
UniProt Synonym Protein Names
Tropoelastin
UniProt Entry Name
ELN_HUMAN
NCBI Summary for TE
This gene encodes a protein that is one of the two components of elastic fibers. The encoded protein is rich in hydrophobic amino acids such as glycine and proline, which form mobile hydrophobic regions bounded by crosslinks between lysine residues. Deletions and mutations in this gene are associated with supravalvular aortic stenosis (SVAS) and autosomal dominant cutis laxa. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
UniProt Comments for TE
elastin: Major structural protein of tissues such as aorta and nuchal ligament, which must expand rapidly and recover completely. Molecular determinant of the late arterial morphogenesis, stabilizing arterial structure by regulating proliferation and organization of vascular smooth muscle. Defects in ELN are the cause of cutis laxa, autosomal dominant, type 1 (ADCL1). A connective tissue disorder characterized by loose, hyperextensible skin with decreased resilience and elasticity leading to a premature aged appearance. Face, hands, feet, joints, and torso may be differentially affected. Additional variable clinical features are gastrointestinal diverticula, hernia, and genital prolapse. Rare manifestations are pulmonary artery stenosis, aortic aneurysm, bronchiectasis, and emphysema. Defects in ELN are the cause of supravalvular aortic stenosis (SVAS). SVAS is a congenital narrowing of the ascending aorta which can occur sporadically, as an autosomal dominant condition, or as one component of Williams-Beuren syndrome. ELN is located in the Williams-Beuren syndrome (WBS) critical region. WBS results from a hemizygous deletion of several genes on chromosome 7q11.23, thought to arise as a consequence of unequal crossing over between highly homologous low-copy repeat sequences flanking the deleted region. Haploinsufficiency of ELN may be the cause of certain cardiovascular and musculo-skeletal abnormalities observed in the disease. Belongs to the elastin family. 13 isoforms of the human protein are produced by alternative splicing.
Protein type: Secreted; Secreted, signal peptide; Extracellular matrix
Chromosomal Location of Human Ortholog: 7q11.23
Cellular Component: extracellular region; proteinaceous extracellular matrix
Molecular Function: extracellular matrix structural constituent; protein binding
Biological Process: blood circulation; cell proliferation; extracellular matrix disassembly; extracellular matrix organization and biogenesis; organ morphogenesis; respiratory gaseous exchange
Disease: Cutis Laxa, Autosomal Dominant 1; Supravalvular Aortic Stenosis; Williams-beuren Syndrome
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Products associated with TE elisa kit
Pathways associated with TE elisa kit
Diseases associated with TE elisa kit
Organs/Tissues associated with TE elisa kit
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