UCMD Information Archive

QUICK SEARCH

MAIN
FAQ
ARTICLES
SEARCH
CONTACT
LINKS

FREQUENTLY ASKED QUESTIONS:

What causes Ullrich's congenital muscular dystrophy?

Defects in col6a2 are a cause of ullrich congenital muscular dystrophy (ucmd) [mim:254090]; also known as ullrich scleroatonic muscular dystrophy. Ucmd is an autosomal recessive congenital myopathy characterized by muscle weakness and multiple joint contractures, generally noted at birth or early infancy.
Taken from: http://www.ebi.ac.uk/proteome/HUMAN/chromosomes/disease_set/21.html

What is col6a2?

The Approved Gene Symbol is COL6A2. The Approved Gene Name: collagen, type VI, alpha 2
Taken from: http://www.gene.ucl.ac.uk/cgi-bin/nomenclature/get_data.pl?hgnc_id=2212

What does COL6A2 do?

This gene encodes one of the three alpha chains of type VI collagen, a beaded filament collagen found in most connective tissues. The product of this gene contains several domains similar to von Willebrand Factor type A domains. These domains have been shown to bind extracellular matrix proteins, an interaction that explains the importance of this collagen in organizing matrix components. Mutations in this gene are associated with Bethlem myopathy and Ullrich scleroatonic muscular dystrophy.
Taken From: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=protein&dopt=GenPept&list_uids=17402875

What is collagen?

Protein which contains one or more collagen-like domain. Collagen is a fibrous protein found in vertebrates, the major element of skin, bone, tendon, cartilage, blood vessels and teeth. It forms insoluble fibres of high tensile strength and which contains the unusual amino acids hyroxyproline and hydroxylysine. It is rich in glycine but lacks cysteine and tryptophan, and has an unusually regular amino-acid domain.
Taken from: http://ca.expasy.org/cgi-bin/get-entries?KW=Collagen

Standard Disclaimer: This site is designed for educational purposes only. The information provided through this site should not be used for diagnosing or treating a medical issue, health problem or a disease. It is not a substitute for professional care. If you have or suspect you may have UCMD, you should consult your health care provider.