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, ...
Ohkubo,
Shibata,
Ohnuma,
Higashi,
Usui,
Ueki,
Nagao,
Arai,
Akiyama,
Sakai,
Sugiyama-Nakagiri,
Yamanaka,
McMillan,
Sawamura,
Niizeki,
Miyagawa,
Shimizu,
Akiyama,
Sugiyama-Nakagiri,
Sakai,
McMillan,
Goto,
Arita,
Tsuji-Abe,
Tabata,
Matsuoka,
Sasaki,
Sawamura,
Shimizu,
Kelsell,
Norgett,
Unsworth,
Teh,
Cullup,
Mein,
Dopping-Hepenstal,
Dale,
Tadini,
Fleckman,
Stephens,
Sybert,
Mallory,
North,
Witt,
Sprecher,
Taylor,
Ilchyshyn,
Kennedy,
Goodyear,
Moss,
Paige,
Harper,
Young,
Leigh,
Eady,
O'Toole,
Akiyama,
- 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)
- 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)
- 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)
- 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)
- 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)
- 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)
- 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)
- Pathomechanisms of harlequin ichthyosis and ABCA transporters in human diseases. Akiyama, M. Archives of dermatology. (2006)