Cerebrotendinous xanthomatosis

Definition:

Cerebrotendinous xanthomatosis (CTX) is an autosomal recessive lipid-storage disorder caused by deficient activity of CYP27A1 and characterized by formation of xanthomatous lesions in many tissues, particularly the brain, the lens of the eye, and tendons.

References:

[1]. G N Gallus, et al. Clinical and molecular diagnosis of cerebrotendinous xanthomatosis with a review of the mutations in the CYP27A1 gene. Neurol Sci. 2006 Jun;27(2):143-9. [Content Brief]

Biomedical Dictionary

The Biomedical Dictionary is a comprehensive and professional collection of biological academic terms and subject datas. All explanations are supported by authoritative books or high impact factor literatures, and you can acquire accurate explanations of the biomedical terms you want to know.

A B C D E F G H I J K L M N O P Q R S T U V W X Y Z #

MedChemExpress: Contact Us; About Us; Headquarters; Distributors; Statement on False Report; Careers

Customer Support: Technical Support; Service; Ordering Information; Easy Return; Shipping Rates & Policies; Intellectual Property Promise

Resources: Free Sample; Resources; Molarity Calculator; Dilution Calculator; Terms & Conditions; Reconstitution Calculator; Specific Activity Calculator

Subscribe to our E-newsletter

Products are chemical reagents for research use only and are not intended for human use. We do not sell to patients.

Join with us

Name
Email *

	Sorry, but the email address you supplied was invalid.