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P15502
ELN_HUMAN
ELN

Elastin

弹性蛋白

Homo sapiensTaxon: 9606

Alternative splicingDisulfide bondExtracellular matrixHydroxylationProteomics identificationReference proteomeRepeatSecretedSignalWilliams-Beuren syndrome
序列长度

786

氨基酸

分子量

68.4 kDa

理论值

实验结构

0

PDB 条目

相关疾病

2

已记录

功能描述

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 (By similarity)
主动脉和项韧带等组织的主要结构蛋白，必须迅速扩张并完全恢复。 晚期动脉形态发生的分子决定因素，通过调节血管平滑肌的增殖和组织来稳定动脉结构（通过相似性）
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定位与分布

组织特异性

Expressed within the outer myometrial smooth muscle and throughout the arteriolar tree of uterus (at protein level). Also expressed in the large arteries, lung and skin

相关疾病

Cutis laxa, autosomal dominant, 1

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.

Supravalvular aortic stenosis

Congenital narrowing of the ascending aorta which can occur sporadically, as an autosomal dominant condition, or as one component of Williams-Beuren syndrome.

氨基酸序列

MAGLTAAAPRPGVLLLLLSILHPSRPGGVPGAIPGGVPGGVFYPGAGLGALGGGALGPGG
KPLKPVPGGLAGAGLGAGLGAFPAVTFPGALVPGGVADAAAAYKAAKAGAGLGGVPGVGG
LGVSAGAVVPQPGAGVKPGKVPGVGLPGVYPGGVLPGARFPGVGVLPGVPTGAGVKPKAP
GVGGAFAGIPGVGPFGGPQPGVPLGYPIKAPKLPGGYGLPYTTGKLPYGYGPGGVAGAAG

FASTA 格式 · 786 个氨基酸 · 分子量 68.4 kDa