Investigating Mutations in Member 6 (ABCC6) gene, of Sub-family C (CFTR/MRP) of the ATP-binding Cassette Causing Pseudoxanthoma Elasticum

Mutations in the ATP-Binding Cassette subfamily C number 6 gene (ABCC6) gene causes Pseudoxanthoma elasticum (PXE), a rare genetic disorder, typically inherited in an autosomal recessive manner. ABCC6 gene is a member of ATP-Binding Cassette (ABC) transporter family. ABC Transporter family proteins are ATP- dependent pumps hence they are named ATP-binding cassette (ABC) transporter family. This paper examines existing literature on mutations of the specific gene, identifies the mechanisms causing PXE and offers a detailed overlook on the progress made in investigating different mutations of the gene. This study also discusses expression of PXE despite of not inheriting PXE causing mutation but because of a primary abnormality as β-thalassemia a haemoglobinopathy condition, receiving unscrewed liver transplant from a PXE patient or severe reaction to medicine such as Penicillamine.

Author(s): Sharika Akhter, Thomas Georgas, Georgios Giannoukos

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