ABCA12

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ATP-binding cassette, sub-family A (ABC1), member 12
Identifiers
Symbols ABCA12 ; ARCI4A; ARCI4B; ICR2B; LI2
External IDs OMIM607800 MGI2676312 HomoloGene45441 GeneCards: ABCA12 Gene
Orthologs
Species Human Mouse
Entrez 26154 74591
Ensembl ENSG00000144452 ENSMUSG00000050296
UniProt Q86UK0 E9Q876
RefSeq (mRNA) NM_015657 NM_175210
RefSeq (protein) NP_056472 NP_780419
Location (UCSC) Chr 2:
215.8 – 216 Mb
Chr 1:
71.24 – 71.41 Mb
PubMed search [1] [2]

ATP-binding cassette sub-family A member 12 also known as ATP-binding cassette transporter 12 is a protein that in humans is encoded by the ABCA12 gene.[1]

ABCA12 belongs to a group of genes called the ATP-binding cassette family, which makes proteins that transport molecules across cell membranes. The ABCA12 gene is active in some types of skin cells and in several other tissues, such as testis, placenta, lung, stomach, and fetal brain and liver. The ABCA12 protein appears to be essential for normal development of the skin, which provides a barrier between the body and its surrounding environment. Although the exact function of the protein is unknown, researchers suggest that it probably plays an important role in transporting lipids (fats) in cells that make up the outermost layer of skin (the epidermis).

The ABCA12 gene is located on the long (q) arm of chromosome 2 between positions 34 and 35, from base pair 215,621,772 to base pair 215,828,656.

Related conditions[edit]

Several mutations in the ABCA12 gene are known to cause harlequin type ichthyosis.[2] Most of these mutations are predicted to lead to an absence of ABCA12 protein or the production of an extremely small version of the protein that cannot transport lipids properly. A loss of functional ABCA12 protein causes numerous problems with the development of the epidermis before and after birth. Abnormalities in lipid transport prevent the skin from forming an effective barrier and result in the hard, thick scales characteristic of harlequin ichthyosis.

Mutations in the ABCA12 gene also cause another severe skin disorder, lamellar ichthyosis type 2.[3][4] People with this disorder have red, scaly, plate-like skin covering most of their bodies. The ABCA12 mutations that cause this disorder substitute one amino acid (a building block of proteins) for another amino acid in the ABCA12 protein. These mutations almost always occur in an important functional region of the protein (the region that binds to ATP, a molecule that supplies energy for chemical reactions). Changes in the structure of the ABCA12 protein likely disrupt its ability to transport lipids, which affects the development of skin before and after birth.

References[edit]

  1. ^ "Entrez Gene: ATP-binding cassette". 
  2. ^ Kelsell DP, Norgett EE, Unsworth H, et al. (May 2005). "Mutations in ABCA12 underlie the severe congenital skin disease harlequin ichthyosis". Am. J. Hum. Genet. 76 (5): 794–803. doi:10.1086/429844. PMC 1199369. PMID 15756637. 
  3. ^ Annilo T, Shulenin S, Chen ZQ, Arnould I, Prades C, Lemoine C, Maintoux-Larois C, Devaud C, Dean M, Denefle P, Rosier M (2002). "Identification and characterization of a novel ABCA subfamily member, ABCA12, located in the lamellar ichthyosis region on 2q34". Cytogenet Genome Res 98 (2–3): 169–76. doi:10.1159/000069811. PMID 12697999. 
  4. ^ Lefevre C, Audebert S, Jobard F, Bouadjar B, Lakhdar H, Boughdene-Stambouli O, Blanchet-Bardon C, Heilig R, Foglio M, Weissenbach J, Lathrop M, Prud'homme JF, Fischer J (2003). "Mutations in the transporter ABCA12 are associated with lamellar ichthyosis type 2". Hum Mol Genet 12 (18): 2369–78. doi:10.1093/hmg/ddg235. PMID 12915478. 

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