Recombinant Human ATP-binding cassette sub-family B member 7, mitochondrial(ABCB7),partial

Code CSB-YP001053HU
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Source Yeast
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Code CSB-EP001053HU
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Source E.coli
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Code CSB-EP001053HU-B
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Source E.coli
Conjugate Avi-tag Biotinylated
E. coli biotin ligase (BirA) is highly specific in covalently attaching biotin to the 15 amino acid AviTag peptide. This recombinant protein was biotinylated in vivo by AviTag-BirA technology, which method is BriA catalyzes amide linkage between the biotin and the specific lysine of the AviTag.
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Code CSB-BP001053HU
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Source Baculovirus
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Code CSB-MP001053HU
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Source Mammalian cell
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Product Details

Purity >85% (SDS-PAGE)
Target Names ABCB7
Uniprot No. O75027
Alternative Names ABC transporter 7 protein; ABC7; Abcb7; ABCB7_HUMAN; ASAT; Atm1p; ATP binding cassette 7; ATP binding cassette sub family B (MDR/TAP) member 7; ATP binding cassette sub family B member 7; ATP binding cassette sub family B member 7 mitochondrial; ATP binding cassette transporter 7; ATP-binding cassette sub-family B member 7; ATP-binding cassette transporter 7; EST140535; MDR7; mitochondrial; Multidrug resistance protein 7; P-glycoprotein 7; PGP7
Species Homo sapiens (Human)
Protein Length Partial
Tag Info The following tags are available.
N-terminal His-tagged
Tag-Free
The tag type will be determined during production process. If you have specified tag type, please tell us and we will develop the specified tag preferentially.
Form Lyophilized powder
Note: We will preferentially ship the format that we have in stock, however, if you have any special requirement for the format, please remark your requirement when placing the order, we will prepare according to your demand.
Buffer before Lyophilization Tris/PBS-based buffer, 6% Trehalose, pH 8.0
Reconstitution We recommend that this vial be briefly centrifuged prior to opening to bring the contents to the bottom. Please reconstitute protein in deionized sterile water to a concentration of 0.1-1.0 mg/mL.We recommend to add 5-50% of glycerol (final concentration) and aliquot for long-term storage at -20℃/-80℃. Our default final concentration of glycerol is 50%. Customers could use it as reference.
Troubleshooting
and FAQs
Protein FAQs
Storage Condition Store at -20°C/-80°C upon receipt, aliquoting is necessary for mutiple use. Avoid repeated freeze-thaw cycles.
Shelf Life The shelf life is related to many factors, storage state, buffer ingredients, storage temperature and the stability of the protein itself.
Generally, the shelf life of liquid form is 6 months at -20°C/-80°C. The shelf life of lyophilized form is 12 months at -20°C/-80°C.
Lead Time Delivery time may differ from different purchasing way or location, please kindly consult your local distributors for specific delivery time.
Note: All of our proteins are default shipped with normal blue ice packs, if you request to ship with dry ice, please communicate with us in advance and extra fees will be charged.
Notes Repeated freezing and thawing is not recommended. Store working aliquots at 4°C for up to one week.
Datasheet Please contact us to get it.

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Target Background

Function
Exports glutathione-coordinated iron-sulfur clusters such as [2Fe-2S]-(GS)4 cluster from the mitochondria to the cytosol in an ATP-dependent manner allowing the assembly of the cytosolic iron-sulfur (Fe/S) cluster-containing proteins and participates in iron homeostasis. Moreover, through a functional complex formed of ABCB7, FECH and ABCB10, also plays a role in the cellular iron homeostasis, mitochondrial function and heme biosynthesis. In cardiomyocytes, regulates cellular iron homeostasis and cellular reactive oxygen species (ROS) levels through its interaction with COX4I1. May also play a role in hematopoiesis.
Gene References into Functions
  1. data support a model in which cycloheximide -induced downregulation of the iron exporter ABCB7 mRNA transcript resulting from aberrant splicing caused by mutant SF3B1 underlies the increased mitochondrial iron accumulation found in MDS patients with ring sideroblasts PMID: 27211273
  2. A missense mutation in the ABCB7 is a major causative factor of the cerebellar hypoplasia/atrophy found in affected individuals of a Buryat family who had no evidence of sideroblastic anemia. PMID: 26242992
  3. findings support that ABCB7 is implicated in the phenotype of acquired RARS and suggest a relation between SF3B1 mutations and ABCB7 downregulation PMID: 23070040
  4. We describe a fourth family with X-linked sideroblastic anemia and ataxia and a novel mutation in the ABCB7 gene PMID: 22398176
  5. loss of the ABCB7 gene may be a pathogenetic factor underlying mitochondrial iron accumulation in RARS patients with idicXq13. PMID: 21380928
  6. ABCB7 may have a role in refractory anemia with ring sideroblasts PMID: 18398482

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Involvement in disease Anemia, sideroblastic, spinocerebellar ataxia (ASAT)
Subcellular Location Mitochondrion inner membrane; Multi-pass membrane protein.
Protein Families ABC transporter superfamily, ABCB family, Heavy Metal importer (TC 3.A.1.210) subfamily
Database Links

HGNC: 48

OMIM: 300135

KEGG: hsa:22

STRING: 9606.ENSP00000253577

UniGene: Hs.370480

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