Recombinant Human ATP-binding cassette sub-family A member 12(ABCA12) ,partial

Code CSB-YP774804HU
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Source Yeast
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Code CSB-EP774804HU
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Source E.coli
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Code CSB-EP774804HU-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-BP774804HU
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Source Baculovirus
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Code CSB-MP774804HU
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Source Mammalian cell
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Product Details

Purity >85% (SDS-PAGE)
Target Names ABCA12
Uniprot No. Q86UK0
Alternative Names ABC transporter A family member 12; ABC transporter ABCA.12; ABC12; ABCA12; ABCAC_HUMAN; AtABCA12; ATH16; ATP binding cassette 12; ATP binding cassette sub family A (ABC1) member 12; ATP binding cassette sub family A member 12; ATP binding cassette transporter 12; ATP-binding cassette 12; ATP-binding cassette sub-family A member 12; ATP-binding cassette transporter 12; Ichthyosis congenita II lamellar ichthyosis B; ICR2B; LI2; Putative ABC2 homolog 16
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
Transports lipids such as glucosylceramides from the outer to the inner leaflet of lamellar granules (LGs) membrane, whereby the lipids are finally transported to the keratinocyte periphery via the trans-Golgi network and LGs and released to the apical surface of the granular keratinocytes to form lipid lamellae in the stratum corneum of the epidermis, which is essential for skin barrier function. In the meantime, participates in the transport of the lamellar granules-associated proteolytic enzymes, in turn regulates desquamation and keratinocyte differentiation. Furthermore, is essential for the regulation of cellular cholesterol homeostasis by regulating ABCA1-dependent cholesterol efflux from macrophages through interaction with NR1H2 and ABCA1. Plays pleiotropic roles in regulating glucose stimulated insulin secretion from beta cells, regulating the morphology and fusion of insulin granules, lipid raft abundance and the actin cytoskeleton. Also involved in lung surfactant biogenesis.
Gene References into Functions
  1. A novel heterozygous missense mutation was identified in ATP-binding cassette sub-family A member 12 (ABCA12) within a family afflicted with keratosis pilaris. In addition, upregulated ABCA12 expression levels in the sebaceous glands of patients with nevus comedonicus were investigated. PMID: 30066947
  2. the present study has identified a novel homozygous deleterious intronic variant, which is associated with a severe phenotype of HI. PMID: 29377090
  3. two missense ABCA12 mutations were uncovered in both of the affected brothers. PMID: 28236338
  4. we identified three novel mutations and one reported mutation in the TGM1 and ABCA12 genes, respectively, in affected siblings of five Saudi unrelated families PMID: 27061915
  5. Genes ABCC7, A3, A8, A12, and C8 prevailed among the most upregulated or downregulated ones. In conclusion, the results supported our theory about general adenosine triphosphate-binding cassette gene expression profiles and their importance for cancer on clinical as well as research levels. PMID: 28468577
  6. Autosomal recessive inheritance of mutations in the ATP-binding cassette, subfamily A, member 12 (ABCA12, OMIM*607800, chromosome 2q35) gene was found to be responsible for the disease. PMID: 25563821
  7. Identification of the key promoter element of ABCA12 in this study may provide relevant information for genetic diagnosis of recessive congenital ichthyosis. PMID: 25338618
  8. Ssnger sequencing of the parents of neonates deceased patients with Harlequin ichthyosis identified novel mutations in ABCA12 gene. PMID: 25479012
  9. ABCA12 mutations result in defective lipid transport via lamellar granules in the keratinocytes, leading to ichthyosis phenotypes from malformation of the stratum corneum lipid barrier. PMID: 23954554
  10. Report a consanguineous family of Arab Muslim origin with several members displaying a severe form of congenital ichthyosiform erythroderma. Identified a region of homozygosity shared by all patients on 2q34, in a region harbouring the ABCA12 gene. PMID: 23528209
  11. We show that homozygosity for a novel c.4676G>T transition in the ABCA12 gene, resulting in a p.G1559V substitution, causes non-bullous congenital ichthyosiform erythroderms in 5 members of an extended family. PMID: 22257947
  12. The authors report on a 2282del4 mutation that may be associated with ichthyosis vulgaris in a Pakistani population. PMID: 21712002
  13. The researchers report on another fatal case of Harlequin ichthyosis that may be associated with mutations of the ABCA12 gene PMID: 21798141
  14. AKT signaling helps ABCA12 deficient keratinocytes survive during the keratinization process. PMID: 21633372
  15. Mutation analysis revealed that 52% of the survivors of harlequin ichthyosis had compound heterozygous mutations of ABCA12, whereas all deaths were associated with homozygous mutations of ABCA12. PMID: 21339420
  16. loss of ABCA12 function leads to a defective lipid barrier in the stratum corneum, resulting in an ichthyotic phenotype (Review) PMID: 20672373
  17. Our results clearly demonstrate that ABCA12 deficiency impairs glucosylceramide accumulation in lamellar bodies, thereby strongly indicating that ABCA12 transports glucosylceramide to the inner leaflet of lamellar bodies. PMID: 20869849
  18. Cloning, characterization and chromosome mapping of ABCA12. PMID: 12697999
  19. Mutations in the transporter ABCA12 are associated with lamellar ichthyosis type 2. PMID: 12915478
  20. Sequencing of the ABCA12 gene, which maps within the minimal region defined by homozygosity mapping, revealed disease-associated mutations, including large intragenic deletions and frameshift deletions in 11 of the 12 screened individuals with HI. PMID: 15756637
  21. 5 distinct ABCA12 mutations, either in a compound heterozygous or homozygous state, in patients from 4 harlequin ichthyosis families PMID: 16007253
  22. These mutation data establish ABCA12 as the major harlequin ichthyosis gene. PMID: 16902423
  23. study identified two novel ABCA12 mutations in two unrelated non-bullous congenital ichthyosiform erythroderma patients; both patients presented with multiple skin malignancies including malignant melanoma PMID: 17508018
  24. Our findings demonstrate that ABCA12 is highly expressed in fetal skin and suggest that ABCA12 may play an essential role under both the wet and dry conditions. PMID: 17591952
  25. PPAR and LXR activators regulate ABCA12 expression in human keratinocytes. PMID: 17611579
  26. ABCA12 plays an important role in lipid transport from the Golgi apparatus to lamellar granules in human granular layer keratinocytes. PMID: 17927575
  27. mutation analysis of twelve families demonstrated novel and recurring ABCA12 mutations PMID: 17986308
  28. ABCA12 is reduced in harlequin ichrhyosis and thus is a key molecule in regulating keratinocyte differentiation and transporting specific proteases associated with desquamation. PMID: 19179616
  29. ABCA12 is a major causative gene for non-bullous congenital ichthyosiform erythroderma. PMID: 19262603
  30. ceramide, an important lipid component of epidermis, up-regulates ABCA12 expression via the PPARdelta-mediated signaling pathway, providing a substrate-driven, feed-forward mechanism for regulating this key lipid transporter PMID: 19429679

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Involvement in disease Ichthyosis, congenital, autosomal recessive 4A (ARCI4A); Ichthyosis, congenital, autosomal recessive 4B (ARCI4B)
Subcellular Location Cytoplasmic vesicle, secretory vesicle membrane; Multi-pass membrane protein. Golgi apparatus membrane.
Protein Families ABC transporter superfamily, ABCA family
Tissue Specificity Mainly expressed in the stomach, placenta, testis and fetal brain. Expressed in the upper epidermal layers, mainly the granular layers, of skin. Expressed throughout the normal interfollicular epidermis with prominent expression in the stratum granulosum.
Database Links

HGNC: 14637

OMIM: 242500

KEGG: hsa:26154

STRING: 9606.ENSP00000272895

UniGene: Hs.134585

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