ABCA12 Antibody

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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HGNC: 14637

OMIM: 242500

KEGG: hsa:26154

STRING: 9606.ENSP00000272895

UniGene: Hs.134585