Bi-allelic Alterations in AEBP1 Lead to Defective Collagen Assembly and Connective Tissue Structure Resulting in a Variant of Ehlers-Danlos Syndrome.

doi:10.1016/j.ajhg.2018.02.018

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Article

Bi-allelic Alterations in AEBP1 Lead to Defective Collagen Assembly and Connective Tissue Structure Resulting in a Variant of Ehlers-Danlos Syndrome.

American journal of human genetics - 5 Apr 2018

Blackburn Patrick R, Xu Zhi, Tumelty Kathleen E, Zhao Rose W, Monis William J, Harris Kimberly G, Gass Jennifer M, Cousin Margot A, Boczek Nicole J, Mitkov Mario V, Cappel Mark A, Francomano Clair A, Parisi Joseph E, Klee Eric W, Faqeih Eissa, Alkuraya Fowzan S, Layne Matthew D, McDonnell Nazli B, Atwal Paldeep S

Abstract excerpt

AEBP1 encodes the aortic carboxypeptidase-like protein (ACLP) that associates with collagens in the extracellular matrix (ECM) and has several roles in development, tissue repair, and fibrosis. ACLP is expressed in bone, the vasculature, and dermal tissues and is involved in fibroblast proliferation and mesenchymal stem cell differentiation into collagen-producing cells. Aebp1-/- mice have abnormal, delayed wound...

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Identifiers

PMID: 29606302
DOI: 10.1016/j.ajhg.2018.02.018
PMCID: PMC5985336

Genes

AEBP1

Variants

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