AFG3L2 Polyclonal Antibody, 20ul Sample Library Tubes Mutations in this gene are

Mutations in this gene are associated with platelet-type bleeding disorders| which are characterized by a failure of platelet aggregation| including Glanzmann thrombasthenia

This gene is clustered among 4 other ABC1 family members on 17q24| but neither the substrate nor the function of this gene is known

however| the expression pattern suggests a role in lipid homeostasis in cells of the immune system

The structural organization of this gene also suggested that it had diverged considerably from the beta chain genes

AFG3L2 Polyclonal Antibody, 20ul Sample Library Tubes Mutations in this gene areThis gene encodes a protein localized in mitochondria and closely related to paraplegin. The paraplegin gene is responsible for an autosomal recessive form of hereditary spastic paraplegia. This gene is a candidate gene for other hereditary spastic paraplegias or neurodegenerative disorders.