ABCB6: ABCB6 Protein | ABCB6 Antibody

ABCB6 Gene family

ABCB6 Protein

ABCB6 protein function

Binds heme and porphyrins and functions in their ATP-dependent uptake into the mitochondria. Plays a crucial role in heme synthesis.

ABCB6 protein expression

Tissue specificity

Widely expressed. High expression is detected in the retinal epithelium.

Induction

Up-regulated by cellular porphyrins (at protein level). Up-regulated during erythroid differentiation (at protein level).

ABCB6 protein sequence

This sequence information is just for reference only.From Uniport

  • Length
    842.00
  • Mass (Da)
    93.00

ABCB6 Gene

The protein encoded by this gene is a protease inhibitor and cytokine transporter. It uses a bait-and-trap mechanism to inhibit a broad spectrum of proteases, including trypsin, thrombin and collagenase. It can also inhibit inflammatory cytokines, and it thus disrupts inflammatory cascades. Mutations in this gene are a cause of alpha-2-macroglobulin deficiency. This gene is implicated in Alzheimer's disease (AD) due to its ability to mediate the clearance and degradation of A-beta, the major component of beta-amyloid deposits. A related pseudogene, which is also located on the p arm of chromosome 12, has been identified. [NCBI]