HEM6 Rabbit Polyclonal Antibody, 50ul Gloves Mutations in this gene have

Mutations in this gene have been associated with bone marrow failure syndrome 2

The RAB5 protein is a small GTPase involved in membrane trafficking in the early endocytic pathway

as described in human patients with lissencephaly

and negatively regulate NTR induced cell death and NF-kappa B activation

C1QTNF8 (C1q And Tumor Necrosis Factor Related Protein 8) is a Protein Coding gene

HEM6 Rabbit Polyclonal Antibody, 50ul Gloves Mutations in this gene haveThe protein encoded by this gene is the sixth enzyme of the heme biosynthetic pathway. The encoded enzyme is soluble and found in the intermembrane space of mitochondria. This enzyme catalyzes the stepwise oxidative decarboxylation of coproporphyrinogen III to protoporphyrinogen IX a precursor of heme. Defects in this gene are a cause of hereditary coproporphyria (HCP).