ABCB6 Antibodies

ATP-binding cassette sub-family B member 6, mitochondrial (ABCB6)

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

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Gene Information

Human
Gene Name:	ABCB6
Uniprot:	Q9NP58
Entrez:	10058

Family

Belongs to:
ABC transporter superfamily

Alternative Names

ABC; ABC14; ABCB6; ATP-binding cassette, sub-family B (MDR/TAP), member 6; EC 3.6.3; EST45597; FLJ22414; LAN; MCOPCB7; Mitochondrial ABC transporter 3; mitochondrial; MTABC3; MTABC3ABC14; P-glycoprotein-related protein; PRP; Umat

Molecular Weight

Mass (kDA):
93.886 kDA

Genomic Context

Human
Location:	2q35
Sequence:	2; NC_000002.12 (219209772..219218958, complement)

Tissue Specificity

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

Subcellular Localizations

Cell membrane; Multi-pass membrane protein. Mitochondrion outer membrane; Multi-pass membrane protein. Endoplasmic reticulum membrane; Multi-pass membrane protein. Golgi apparatus membrane; Multi-pass membrane protein. Endosome membrane; Multi-pass membrane protein. localized to the endosome-like compartment and dendrite tips.

Diseases

• Malignant Neoplasms
• Neoplasms
• Liver Carcinoma
• Carcinoma
• Prion Diseases
• Malignant Neoplasm Of Breast
• Anemia
• Liver Neoplasms
• Neoplasm Metastasis
• Mammary Neoplasms
• Malignant Neoplasm Of Liver
• Acute Erythroblastic Leukemia
• Leukemia

• Hyperplasia
• Microphthalmos
• Non-neoplastic Disorder
• Melanoma
• Ataxia
• Hypoxia
• Sideroblastic Anemia

Pathways

• Transport
• Drug Resistance
• Localization
• Glycosylation
• Cell Cycle
• Cell Growth
• Gene Silencing
• Induction Of Apoptosis
• Electron Transport
• Electron Transport Chain
• Dna Repair
• Oxidative Phosphorylation
• Response To Oxidative Stress

• Methylation
• Mitochondrial Translocation
• Mitochondrial Transport
• Posttranscriptional Gene Silencing
• Oxygen Transport
• Pathogenesis
• Pachytene

PTMs

• Glycosylation

• Reduction

For details, visit:
bosterbio.com/bosterbio-gene-info-cards/ABCB6

Best Uses of the ABCB6 Marker

The ABCB6 marker has many benefits. This article will focus on some of the most popular applications of this gene in research. In this article, we will look at its Dispensable role in erythropoiesis, its Plasma membrane localization, and its Heme degradation products. The article also discusses its implications in biomedical research such as determining its role in inflammatory diseases like cancer.

Dispensable for erythropoiesis

Rac1 and Rac2 genes are essential for erythropoiesis. They are necessary for normal erythropoiesis. This gene is also required for erythropoiesis when there are stress conditions. This gene is not required for erythropoiesis of the spleen.

While the role of heme as well as porphyrin in erythropoiesis is still well understood and well-explained, the transport of heme intermediates and porphyrin is less well understood. Although erythropoiesis may depend on ALA, an additional metabolite of heme that is found in extracellular tissues, it is not clear what its function is.

Lysosomal importer

The ABC transporter LMBD1 has been shown to associate with a lysosomal protein named ABCD4. Subcellular localization of ABCD4 is determined by its association with LMBD1. Enzymatic transport is dependent on its association with ABCB6 as well as the lysosomal transportationer LMBD1. The efficient endocytic transfer of proteins from the lysosomes to the lysosomes requires the LMBD1 associated ABC transporter.

LMBD1 is thought to have six glycosylation locations. Its expression is restricted only to lysosomes. This protein can also be expressed in cells that express the ABCB6 gene. The distribution of the marker looks similar to LAMP1.

In the presence of DNA or RNA, this protein was purified and its ATPase activity was determined. The activity of the purified mutant proteins was very low. It was able to interact, however, with its proposed substrate CPIII. This confirms that ATPase activity can be stimulated by CPIII. As a result, this marker is a highly specific lysosomal importer.

Two out of six patients suffering from DUH had mutations in ABCB6. These patients had abnormal skin pigmentation, suggesting that ABCB6 could play a physiological function in skin pigmentation. It was also found in the dendrite tips of neurons and epidermis. ABCB6 is considered a useful marker to diagnose DUH.

A protease-protection assay was used for the detection of purified ABCB6 protein. The C-terminal FLAG tag (C-terminal FLAG) of ABCB6 can be used to inhibit protease degrading in both NBD-in and NBD–out orientations. ABCB6 overexpression in this way results in increased heme synthesis compared to the control cells. Further analysis showed that both the overexpressed protein and the endogenous protein resolve as three bands of 180, 90, and 50 kDa, respectively. Further analysis confirmed the protein was ABCB6.

Two genetic variants were also identified in ABCB6. The c.1067T>C ABCB6 mutation was found in all affected. Cosegregation analysis confirmed that ZNF142, another gene, is a single nucleotide-polymorphism. Thus, ABCB6 may be a disease-causing gene in DUH.

Plasma membrane localization

ABCB6, a well-characterized marker in plasma membranes, colocalizes with several markers such as the Golgi (ER) and is well-characterized. Because of its short half-life, it is unlikely that it is localized to mitochondria. Here, we describe the best uses of the ABCB6 marker for plasma membrane localization. The ABCB6 marker is available in a wide range of chemical configurations and is useful for a variety of applications.

This marker was originally used to differentiate reticulocytes. The exosomes exhibited high levels of TfR (ABCB6). The high concentration of TfR and ABCB6 suggests that exosome biogenesis contributes to plasma membrane remodeling in RBCs. It is unclear if this marker can be used for RBCs. To find out where ABCB6 is located, it is crucial to study its function in RBCs.

Moreover, ABCB6 may offer protection to erythroid cells and excrete heme degradation products. Some studies indicate that this proteins is found in the endolysosomal section of cells. This compartment is made up of different membrane organelles which interact via targeting mechanisms or fusion. TfR and ABCB6 both express the same endosomal compartment within HeLa cells. They may even colocalize in one intracellular compartment.

To characterize ABCB6/HMT-1 as well as GFP-GFP, a Zeiss LSM710 Confocal Microscope with ZEN 2009 Software was used. The animals were immobilized by 20 mM sodium azide and mounted on 2% cotton pads. Texas Red and FITC filters were used to image the animals. Zeiss XioVision 4.8 software was used to capture the images.

The ABCB6/HMT-1 homologous protein is highly stable and has high plasma membrane localization properties. This fusion molecule interacts with HMT-1/GFP in the native species, but does NOT dimerize. Furthermore, in addition to GFP and HMT-1, ABCB6/HMT-1 can also interact with their own ATPase substrates and can be detected in cell culture systems using co-immunoprecipitation assays.

The ABCB6-mutant mutants have an impact on ABCB6 expression and its localization. HEK-293 cells expressing the ABCB6 gene showed an increase in heme synthesis compared to those without vector control. Each band contains 180, 90 and 50 kDa of the overexpressed protein. The blot shows positive results for the ABCB6 protein when stained using Coomassie Blue.

Heme degradation products

Boster Bio has a detailed user manual that will help you optimize TF experiments. This guide includes overviews, basic information, and detailed information about specific diseases. It is a great resource that can help you optimize and troubleshoot your TTF experiments. It's a good idea for beginners to read the guide to gain a better understanding of the TF markers' workings.