ABCA12 Membrane Protein Introduction

Introduction of ABCA12

ABCA12 encoded by ABCA12 gene is a member of the superfamily of ATP-binding cassette (ABC) transporters which transport various molecules across extra- and intracellular membranes. There are seven subfamilies in ABC superfamily named as ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White, respectively. ABCA12 protein belongs to ABC1 subfamily. It is highly expressed in the skin.

Function of ABCA12 Membrane Protein

ABCA12 is a keratinocyte lipid transporter protein and plays an essential role in transporting lipids in the cells that constitute the outermost layer of the skin. And the outermost lipid layer within the epidermis forms a barrier between the body and surrounding environment that prevents water loss from the skin cells, stops germs from invading the body through the skin, and helps to the normal development of the skin. However, the dysfunctions of ABCA12 may block lipids transport and skin barrier formation, resulting in fluid loss and infection. It has been reported that mutations in ABCA12 lead to loss of lipid transport to the stratum corneum and restraining the formation of lamellar granules in the layer of skin. Moreover, mutations in ABCA12 have been revealed an association with some skin diseases, such as harlequin ichthyosis, congenital ichthyosiform erythroderma and lamellar ichthyosis. In addition, ABCA12 has been also shown to present in the putative pancreatic cancer stem cells and seems to be linked to the drug resistance of cancer therapy.

Fig.1 Pathogenesis of Harlequin ichthyosis (HI) caused by an adenosine triphosphate-binding cassette A12 (ABCA12) deficiency. (Singh, 2014)

Application of ABCA12 Membrane Protein in Literature

1. Esperón-Moldes U., et al. ABCA12 mutations in patients with autosomal recessive congenital ichthyosis: evidence of a founder effect in the Spanish population and phenotype-genotype implications. Journal of Dermatological Science. 2018, 91(3): 328-331. PubMed ID: 29887490
   
   

   The study identified an association between ABCA12 mutations and autosomal recessive congenital ichthyosis. And the severity of mutations affecting this gene was linked to the clinical phenotype developed by the patient.

2. Loo B.K.G., et al. Compound heterozygous mutations with novel missense ABCA12 mutation in harlequin ichthyosis. BMJ Case Rep. 2018. PubMed ID: 29298786
   
   

   The study found a compound heterozygous mutation (a known single nucleotide deletion and a novel single nucleotide substitution) within ABCA12 gene in the patient with harlequin ichthyosis.

3. Sheth J.J., et al. Harlequin ichthyosis due to novel splice site mutation in the ABCA12 gene: postnatal to prenatal diagnosis. International Journal of Dermatology. 2018, 57(4): 428-433. PubMed ID: 29377090
   
   

   The study found the novel intronic mutation in ABCA12 can be regarded as a marker for harlequin ichthyosis diagnosis, which provides a precise genetic counseling for further prevention of the disease.

4. Chao K., et al. Lamellar ichthyosis in a female neonate without a collodion membrane. Dermatol Online J. 2018, 24(2). PubMed ID: 29630152
   
   

   The study showed that mutations in the ABCA12 gene can lead to the lamellar ichthyosis phenotype of autosomal recessive congenital ichthyosis (ARCI).

5. Zhang L., et al. Defects in stratum corneum desquamation are the predominant effect of impaired ABCA12 function in a novel mouse model of harlequin ichthyosis. Plos One. 2016, 11(8): e0161465. PubMed ID: 27551807
   
   

   The study revealed that ABCA12 played an important role in the construction skin barrier by transporting lipid in cells. Moreover, ABCA12 also functioned as the proteolytic enzymes required for normal desquamation.

ABCA12 Preparation Options

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Reference

1. Singh H P and Kaur A. (2014). Halequin ichthyosis: an autosomal dermatological disorder. World Journal of Pharmaceutical Research. 3(9), 248-257.

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