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Gene Review

ABCA12  -  ATP-binding cassette, sub-family A (ABC1),...

Homo sapiens

Synonyms: ABC12, ARCI4A, ARCI4B, ATP-binding cassette 12, ATP-binding cassette sub-family A member 12, ...
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Disease relevance of ABCA12


High impact information on ABCA12

  • ABCA12 is a member of the ATP-binding cassette transporter family, and members of the ABCA subfamily are known to have closely related functions as lipid transporters [1].
  • We concluded that ABCA12 works as an epidermal keratinocyte lipid transporter and that defective ABCA12 results in a loss of the skin lipid barrier, leading to HI [1].
  • Since HI epidermis displays abnormal lamellar granule formation, ABCA12 may play a critical role in the formation of lamellar granules and the discharge of lipids into the intercellular spaces, which would explain the epidermal barrier defect seen in this disorder [3].
  • We report the identification of five missense mutations in the ABCA12 gene in nine families from Africa affected by LI2 [4].
  • The ABCA12 protein belongs to a superfamily of membrane proteins that translocate a variety of substrates across extra- and intracellular membranes [4].

Biological context of ABCA12


Anatomical context of ABCA12


Associations of ABCA12 with chemical compounds

  • T1387del was a deletion of a highly conserved threonine residue within the first adenosine 5' triphosphate-binding domain and is thought to seriously affect the function of the ABCA12 protein [6].

Other interactions of ABCA12

  • ABCA12 is most closely related to ABCA1, with an amino acid similarity of 47% [5].
  • These results indicate that the common polymorphisms of the ABCG5 and ABCA12 genes investigated here are not associated with AD [7].

Analytical, diagnostic and therapeutic context of ABCA12

  • DATA SYNTHESIS: This article describes ABCA12 as a causative molecule involved in defects in HI, summarizes the known genetic disorders caused by genetic defects in ABCA lipid transporters, and highlights the prospects of prenatal diagnosis and gene therapy for HI [8].


  1. Mutations in lipid transporter ABCA12 in harlequin ichthyosis and functional recovery by corrective gene transfer. Akiyama, M., Sugiyama-Nakagiri, Y., Sakai, K., McMillan, J.R., Goto, M., Arita, K., Tsuji-Abe, Y., Tabata, N., Matsuoka, K., Sasaki, R., Sawamura, D., Shimizu, H. J. Clin. Invest. (2005) [Pubmed]
  2. ABCA12 Is the Major Harlequin Ichthyosis Gene. Thomas, A.C., Cullup, T., Norgett, E.E., Hill, T., Barton, S., Dale, B.A., Sprecher, E., Sheridan, E., Taylor, A.E., Wilroy, R.S., Delozier, C., Burrows, N., Goodyear, H., Fleckman, P., Stephens, K.G., Mehta, L., Watson, R.M., Graham, R., Wolf, R., Slavotinek, A., Martin, M., Bourn, D., Mein, C.A., O'toole, E.A., Kelsell, D.P. J. Invest. Dermatol. (2006) [Pubmed]
  3. Mutations in ABCA12 underlie the severe congenital skin disease harlequin ichthyosis. Kelsell, D.P., Norgett, E.E., Unsworth, H., Teh, M.T., Cullup, T., Mein, C.A., Dopping-Hepenstal, P.J., Dale, B.A., Tadini, G., Fleckman, P., Stephens, K.G., Sybert, V.P., Mallory, S.B., North, B.V., Witt, D.R., Sprecher, E., Taylor, A.E., Ilchyshyn, A., Kennedy, C.T., Goodyear, H., Moss, C., Paige, D., Harper, J.I., Young, B.D., Leigh, I.M., Eady, R.A., O'Toole, E.A. Am. J. Hum. Genet. (2005) [Pubmed]
  4. Mutations in the transporter ABCA12 are associated with lamellar ichthyosis type 2. Lefévre, 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, J.F., Fischer, J. Hum. Mol. Genet. (2003) [Pubmed]
  5. Identification and characterization of a novel ABCA subfamily member, ABCA12, located in the lamellar ichthyosis region on 2q34. Annilo, T., Shulenin, S., Chen, Z.Q., Arnould, I., Prades, C., Lemoine, C., Maintoux-Larois, C., Devaud, C., Dean, M., Denèfle, P., Rosier, M. Cytogenet. Genome Res. (2002) [Pubmed]
  6. Compound heterozygous mutations including a de novo missense mutation in ABCA12 led to a case of harlequin ichthyosis with moderate clinical severity. Akiyama, M., Sakai, K., Sugiyama-Nakagiri, Y., Yamanaka, Y., McMillan, J.R., Sawamura, D., Niizeki, H., Miyagawa, S., Shimizu, H. J. Invest. Dermatol. (2006) [Pubmed]
  7. No genetic association between ATP binding cassette proteins and Japanese sporadic Alzheimer's disease. Ohkubo, T., Shibata, N., Ohnuma, T., Higashi, S., Usui, C., Ueki, A., Nagao, M., Arai, H. Dementia and geriatric cognitive disorders. (2005) [Pubmed]
  8. Pathomechanisms of harlequin ichthyosis and ABCA transporters in human diseases. Akiyama, M. Archives of dermatology. (2006) [Pubmed]
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