ABCA12 antibody

ABCA12 antibody
中文名称腺苷三磷酸结合盒转运体12抗体别    名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; ABCAC_HUMAN.  规格价格100ul/1380元 购买    200ul/2200元 购买    大包装/询价说 明 书100ul  200ul研究领域肿瘤  细胞生物  免疫学  信号转导  新陈代谢  细胞膜蛋白  抗体来源Rabbit克隆类型Polyclonal交叉反应Human, Mouse, Rat, Dog, Pig, Rabbit, 产品应用ELISA=1:500-1000 IHC-P=1:400-800 IHC-F=1:400-800 ICC=1:100-500 IF=1:100-500 （石蜡切片需做抗原修复） 
not yet tested in other applications.
optimal dilutions/concentrations should be determined by the end user.分 子 量293kDa细胞定位细胞膜 性    状Lyophilized or Liquid浓    度1mg/ml免 疫 原KLH conjugated synthetic peptide derived from human ABCA12:2051-2200/2595 亚    型IgG纯化方法affinity purified by Protein A储 存 液0.01M TBS(pH7.4) with 1% BSA, 0.03% Proclin300 and 50% Glycerol.保存条件Store at -20 °C for one year. Avoid repeated freeze/thaw cycles. The lyophilized antibody is stable at room temperature for at least one month and for greater than a year when kept at -20°C. When reconstituted in sterile pH 7.4 0.01M PBS or diluent of antibody the antibody is stable for at least two weeks at 2-4 °C.PubMedPubMed产品介绍background:
The ATP-binding cassette (ABC) transporters, or traffic ATPases, constitute an expansive family of proteins accountable for the transport of a wide variety of substrates across cell membranes in both prokaryotic and eukaryotic cells. They also aid in the regulation of lipid transport and membrane trafficking. ABCA12 (ATP-Binding Cassette, Subfamily A, Member 12) contains two transmembrane (TM) domains, each with six membrane-spanning segments, and two nucleotide-binding domains (NBDs), which are located in the cytoplasm. ABCA12 is expressed in normal human keratinocytes (RT-PCR reveals expression in placenta, testis, fetal brain, and skin) and is upregulated during keratinization. Immunoelectron microscopy reveals that the ABCA12 protein is located in lamellar granules in the upper epidermal keratinocytes of human skin. The ABCA12 gene, which synthesizes a 2,595-amino acid protein, may produce an alternative splice variant with an in-frame deletion leading to truncation of 79 amino acids.

Function:
Probable transporter involved in lipid homeostasis.

Subcellular Location:
Membrane.

Tissue Specificity:
Mainly expressed in the stomach, placenta, testis and fetal brain.

DISEASE:
Defects in ABCA12 are the cause of ichthyosis harlequin (HI) [MIM:242500]; also known as harlequin fetus. HI is 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) [MIM:601277]; also known as ichthyosis congenita IIB (ICR2B). LI is 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.

Similarity:
Belongs to the ABC transporter superfamily. ABCA family.
Contains 2 ABC transporter domains.

SWISS:
Q86UK0

Gene ID:
26154 

Database links:

Entrez Gene: 26154 Human

Entrez Gene: 74591 Mouse

Entrez Gene: 301482 Rat

Omim: 607800 Human

SwissProt: Q86UK0 Human

Unigene: 134585 Human

Important Note:
This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.