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ABCA12 peptide

Scan QR to view Datasheet Catalog #    MBS426242 ABCA12 peptide
Unit / Price
0.1 mg  /  $190 +1 FREE 8GB USB
 
 Go to:   rightarrow  Product Names   rightarrow Product Info   rightarrow Accession #s   rightarrow Product Desc   rightarrow Diseases/Tissues/Pathways   rightarrow Applications   rightarrow References 
 Product Name   

ABCA12, Peptide

★Popular Item★
 Also Known As   

ABCA12 Immunizing Peptide

 Product Synonym Names    ABCA12; ATP-binding cassette, sub-family A (ABC1), member 12; DKFZp434G232; FLJ41584; ICR2B; LI2; ATP-binding cassette, sub-family A, member 12
 Product Gene Name   

ABCA12 peptide

[Similar Products]
 Antibody/Peptide Pairs    ABCA12 peptide (MBS426242) is used for blocking the activity of ABCA12 antibody (MBS422139)
 Research Use Only    For Research Use Only. Not for use in diagnostic procedures.
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 Sequence    C-KDQKSYET ADTSSQ
 OMIM    242500
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 Species Reactivity    Human, Dog
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 Form/Format    100ug of dried peptide
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 Preparation and Storage    Shipped at ambient temperature, store at -20 degree C
 ISO Certification    Manufactured in an ISO 9001:2015 Certified Laboratory.
 Other Notes    Small volumes of ABCA12 peptide vial(s) may occasionally become entrapped in the seal of the product vial during shipment and storage. If necessary, briefly centrifuge the vial on a tabletop centrifuge to dislodge any liquid in the container`s cap. Certain products may require to ship with dry ice and additional dry ice fee may apply.
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NCBI/Uniprot data below describe general gene information for ABCA12. It may not necessarily be applicable to this product.
 NCBI GI #    30795238
 NCBI GeneID    26154
 NCBI Accession #    NP_775099.2 [Other Products]
 NCBI Related Accession #    NP_056472.2 [Other Products]
 NCBI GenBank Nucleotide #    NM_173076.2 [Other Products]
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 UniProt Secondary Accession #    Q53QE2; Q53S55; Q8IZW6; Q96JT3; Q9Y4M5 [Other Products]
 UniProt Related Accession #    Q86UK0 [Other Products]
 Molecular Weight    256,960 Da
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 NCBI Official Full Name    ATP-binding cassette sub-family A member 12 isoform a
 NCBI Official Synonym Full Names    ATP binding cassette subfamily A member 12
 NCBI Official Symbol    ABCA12 [Similar Products]
 NCBI Official Synonym Symbols   
LI2; ICR2B; ARCI4A; ARCI4B
[Similar Products]
 NCBI Protein Information    ATP-binding cassette sub-family A member 12
 UniProt Protein Name    ATP-binding cassette sub-family A member 12
 UniProt Synonym Protein Names   
ATP-binding cassette transporter 12; ATP-binding cassette 12
 Protein Family    ABC transporter A family
 UniProt Gene Name    ABCA12 [Similar Products]
 UniProt Synonym Gene Names    ABC12; ATP-binding cassette 12 [Similar Products]
 UniProt Entry Name    ABCAC_HUMAN
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 NCBI Summary for ABCA12    The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intracellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, and White). This encoded protein is a member of the ABC1 subfamily, which is the only major ABC subfamily found exclusively in multicellular eukaryotes. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jul 2008]
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 UniProt Comments for ABCA12    ABCA12: Probable transporter involved in lipid homeostasis. ABCA12 mutations are a cause of different subtypes of autosomal recessive congenital ichthyosis (ARCI), including Harlequin ichthyosis (HI), lamellar ichthyosis (LI) and non- bullous congenital ichthyosiform erythroderma (NCIE). HI shows the most severe phenotype. NCIE and LI are clinically characterized by fine, whitish scales on a background of erythematous skin, and large, thick, dark scales over the entire body without serious background erythroderma, respectively. Defects in ABCA12 are the cause of ichthyosis harlequin (HI). A very severe skin disorder in which the neonate is born with a thick covering of armor-like scales. The skin dries out to form hard diamond-shaped plaques separated by fissures, resembling 'armor plating'. The normal facial features are severely affected, with distortion of the lips (eclabion), eyelids (ectropion), ears, and nostrils. Affected babies are often born prematurely and rarely survive the perinatal period. Defects in ABCA12 are the cause of ichthyosis lamellar type 2 (LI2). A non-bullous ichthyosis, a skin disorder characterized by abnormal cornification of the epidermis. It is one the most severe forms of ichthyoses apparent at birth and persisting throughout life. LI patients are born encased in a tight, shiny, translucent covering called collodion membrane. Over the first weeks of life, the collodion membrane is gradually replaced by generalized large, dark brown, plate-like scales with minimal to no erythroderma. Tautness of facial skin commonly results in ectropion, eclabium and scarring alopecia of the scalp. Common complications are severe heat intolerance and recurrent ear infections. Defects in ABCA12 are a cause of erythroderma, ichthyosiform, congenital non-bullous (NCIE). A non- bullous ichthyosis, a skin disorder characterized by abnormal cornification of the epidermis. Most affected individuals are born with a tight, shiny, translucent covering called collodion membrane. The collodion membrane subsequently evolves into generalized scaling and intense redness of the skin. Clinical features are milder than in lamellar ichthyoses and demonstrate a greater variability in the intensity of erythema, size and type of scales. In contrast to lamellar ichthyoses, scales are usually white, fine and powdery, and palms and soles are severely affected. Patients suffer from palmoplantar keratoderma, often with painful fissures, digital contractures, and loss of pulp volume. Belongs to the ABC transporter superfamily. ABCA family. 2 isoforms of the human protein are produced by alternative splicing.

Protein type: Mitochondrial; Membrane protein, multi-pass; Transporter; Transporter, ABC family; Membrane protein, integral

Chromosomal Location of Human Ortholog: 2q34

Cellular Component: cytoplasm; cytosol; integral to membrane; mitochondrial inner membrane; plasma membrane

Molecular Function: apolipoprotein A-I receptor binding; ATP binding; ATPase activity, coupled to transmembrane movement of substances; lipid transporter activity; lipid-transporting ATPase activity; protein binding; receptor binding

Biological Process: alveolus development; cellular homeostasis; keratinization; lipid homeostasis; lipid transport; metabolic process; phospholipid efflux; regulated secretory pathway; secretion by cell; surfactant homeostasis; transmembrane transport

Disease: Ichthyosis, Congenital, Autosomal Recessive 4a; Ichthyosis, Congenital, Autosomal Recessive 4b
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 Research Articles on ABCA12    1. 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.
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 Precautions    All of MyBioSource's Products are for scientific laboratory research purposes and are not for diagnostic, therapeutics, prophylactic or in vivo use. Through your purchase, you expressly represent and warrant to MyBioSource that you will properly test and use any Products purchased from MyBioSource in accordance with industry standards. MyBioSource and its authorized distributors reserve the right to refuse to process any order where we reasonably believe that the intended use will fall outside of our acceptable guidelines.
 Disclaimer    While every efforts were made to ensure the accuracy of the information provided in this datasheet, MyBioSource will not be liable for any omissions or errors contained herein. MyBioSource reserves the right to make changes to this datasheet at any time without prior notice.

It is the responsibility of the customer to report product performance issues to MyBioSource within 30 days of receipt of the product. Please visit our Terms & Conditions page for more information.
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Pathways associated with ABCA12 peptideDiseases associated with ABCA12 peptide
 Products by Pathway  Pathway Diagram
 ABC Transporters Pathway antibodies  ABC Transporters Pathway Diagram
 ABC Transporters Pathway antibodies  ABC Transporters Pathway Diagram
 ABC Transporters In Lipid Homeostasis Pathway antibodies  ABC Transporters In Lipid Homeostasis Pathway Diagram
 ABC-family Proteins Mediated Transport Pathway antibodies  ABC-family Proteins Mediated Transport Pathway Diagram
 Transmembrane Transport Of Small Molecules Pathway antibodies  Transmembrane Transport Of Small Molecules Pathway Diagram
 Disease Name  Pubmed Publications
 Ichthyosis, Lamellar Antibodies  >71 publications with ABCA12 and Ichthyosis, Lamellar
 Congenital Abnormalities Antibodies  >67 publications with ABCA12 and Congenital Abnormalities
 Inflammation Antibodies  >6 publications with ABCA12 and Inflammation
 Atherosclerosis Antibodies  >4 publications with ABCA12 and Atherosclerosis
 Disease Models, Animal Antibodies  >4 publications with ABCA12 and Disease Models, Animal
 Carcinoma, Squamous Cell Antibodies  >3 publications with ABCA12 and Carcinoma, Squamous Cell
 Lamellar ichthyosis, type 2 Antibodies  >3 publications with ABCA12 and Lamellar ichthyosis, type 2
 Breast Neoplasms Antibodies  >2 publications with ABCA12 and Breast Neoplasms
 Alopecia Antibodies  >2 publications with ABCA12 and Alopecia
 Skin Neoplasms Antibodies  >2 publications with ABCA12 and Skin Neoplasms
Organs/Tissues associated with ABCA12 peptide
 Organ/Tissue Name  Pubmed Publications
 Skin Antibodies  >64 publications with ABCA12 and Skin
 Lung Antibodies  >4 publications with ABCA12 and Lung
 Brain Antibodies  >4 publications with ABCA12 and Brain
 Mouth Antibodies  >2 publications with ABCA12 and Mouth
 Placenta Antibodies  >1 publications with ABCA12 and Placenta
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