ABCA12
| ATP Binding Cassette Subfamily A Member 12 | |
|---|---|
| Gene | |
| HUGO | ABCA12 14637 |
| Entrez | 26154 |
| Locus | Chr. 2 {{{Arm}}}{{{Band}}}{{{LocusSupplementaryData}}} |
| Proteina | |
| Massa molecolare (u) | 293237 Da |
| OMIM | 607800 |
L'ABCA12 (ATP Binding Cassette Subfamily A Member 12) è il gene strutturale, localizzato sul cromosoma 2q35, codificante uno dei trasportatori ABC, nello specifico il trasportatore ABCA12 della sottofamiglia ABC1, presente solo negli organismi eucarioti pluricellulari.[1]
Struttura
[modifica | modifica wikitesto]Il gene presenta 53 esoni ed è lungo 206 kb.[2]
Espressione
[modifica | modifica wikitesto]ABCA12 si esprime principalmente nei cheratinociti, ma anche a livello dei testicoli, della placenta, dei polmoni, dello stomaco, del cervello fetale, del colon e del fegato.[1][3]
Patologie correlate
[modifica | modifica wikitesto]Mutazioni dell'ABCA12 conducono a patologie legate alla pelle, nello specifico:
- l'ittiosi lamellare (IL)
- l'ittiosi arlecchino
- l'eritroderma ittiosiforme congenito
Note
[modifica | modifica wikitesto]- ^ a b ABCA12 ATP binding cassette subfamily A member 12 [Homo sapiens (human)] - Gene - NCBI, su www.ncbi.nlm.nih.gov. URL consultato il 24 aprile 2024.
- ^ Entry - *607800 - ATP-BINDING CASSETTE, SUBFAMILY A, MEMBER 12; ABCA12 - OMIM, su omim.org. URL consultato il 24 aprile 2024.
- ^ (EN) Yohei Ishibashi, Ayako Kohyama-Koganeya e Yoshio Hirabayashi, New insights on glucosylated lipids: Metabolism and functions, in Biochimica et Biophysica Acta (BBA) - Molecular and Cell Biology of Lipids, vol. 1831, n. 9, 2013-09, pp. 1475–1485, DOI:10.1016/j.bbalip.2013.06.001. URL consultato il 24 aprile 2024.
Bibliografia
[modifica | modifica wikitesto]- Hotz A, Kopp J, Bourrat E, Oji V, Süßmuth K, Komlosi K, Bouadjar B, Tantcheva-Poór I, Hellström Pigg M, Betz RC, Giehl K, Schedel F, Weibel L, Schulz S, Stölzl DV, Tadini G, Demiral E, Berggard K, Zimmer AD, Alter S, Fischer J. Mutational Spectrum of the ABCA12 Gene and Genotype-Phenotype Correlation in a Cohort of 64 Patients with Autosomal Recessive Congenital Ichthyosis. Genes (Basel). 2023 Mar 15;14(3):717. doi: 10.3390/genes14030717. PMID 36980989; PMCID: PMC10048568.
- Thomas AC, Cullup T, Norgett EE, Hill T, Barton S, Dale BA, Sprecher E, Sheridan E, Taylor AE, Wilroy RS, DeLozier C, Burrows N, Goodyear H, Fleckman P, Stephens KG, Mehta L, Watson RM, Graham R, Wolf R, Slavotinek A, Martin M, Bourn D, Mein CA, O'Toole EA, Kelsell DP. ABCA12 is the major harlequin ichthyosis gene. J Invest Dermatol. 2006 Nov;126(11):2408-13. doi: 10.1038/sj.jid.5700455. Epub 2006 Aug 10. PMID 16902423.
- Kelsell DP, Norgett EE, Unsworth H, Teh MT, Cullup T, Mein CA, Dopping-Hepenstal PJ, Dale BA, Tadini G, Fleckman P, Stephens KG, Sybert VP, Mallory SB, North BV, Witt DR, Sprecher E, Taylor AE, Ilchyshyn A, Kennedy CT, Goodyear H, Moss C, Paige D, Harper JI, Young BD, Leigh IM, Eady RA, O'Toole EA. Mutations in ABCA12 underlie the severe congenital skin disease harlequin ichthyosis. Am J Hum Genet. 2005 May;76(5):794-803. doi: 10.1086/429844. Epub 2005 Mar 8. PMID 15756637; PMCID: PMC1199369.
- Sakai K, Akiyama M, Yanagi T, McMillan JR, Suzuki T, Tsukamoto K, Sugiyama H, Hatano Y, Hayashitani M, Takamori K, Nakashima K, Shimizu H. ABCA12 is a major causative gene for non-bullous congenital ichthyosiform erythroderma. J Invest Dermatol. 2009 Sep;129(9):2306-9. doi: 10.1038/jid.2009.23. Epub 2009 Mar 5. PMID 19262603.
- Parmentier L, Clepet C, Boughdene-Stambouli O, Lakhdar H, Blanchet-Bardon C, Dubertret L, Wunderle E, Pulcini F, Fizames C, Weissenbach J. Lamellar ichthyosis: further narrowing, physical and expression mapping of the chromosome 2 candidate locus. Eur J Hum Genet. 1999 Jan;7(1):77-87. doi: 10.1038/sj.ejhg.5200271. PMID 10094194.
- Parmentier L, Lakhdar H, Blanchet-Bardon C, Marchand S, Dubertret L, Weissenbach J. Mapping of a second locus for lamellar ichthyosis to chromosome 2q33-35. Hum Mol Genet. 1996 Apr;5(4):555-9. doi: 10.1093/hmg/5.4.555. Erratum in: Hum Mol Genet 1996 Jun;5(6):862-3. PMID 8845852.
- Thomas AC, Tattersall D, Norgett EE, O'Toole EA, Kelsell DP. Premature terminal differentiation and a reduction in specific proteases associated with loss of ABCA12 in Harlequin ichthyosis. Am J Pathol. 2009 Mar;174(3):970-8. doi: 10.2353/ajpath.2009.080860. Epub 2009 Jan 29. PMID 19179616; PMCID: PMC2665756.
- Montalván-Suárez M, Esperón-Moldes US, Rodríguez-Pazos L, Ordóñez-Ugalde A, Moscoso F, Ugalde-Noritz N, Santomé L, Fachal L, Tettamanti-Miranda D, Ruiz JC, Ginarte M, Vega A. A novel ABCA12 pathologic variant identified in an Ecuadorian harlequin ichthyosis patient: A step forward in genotype-phenotype correlations. Mol Genet Genomic Med. 2019 May;7(5):e608. doi: 10.1002/mgg3.608. Epub 2019 Mar 27. PMID 30916489; PMCID: PMC6503032.
- Esperón-Moldes U, Ginarte M, Rodríguez-Pazos L, Fachal L, Pozo T, Aguilar JL, Del Boz González J, Santiago AM, Vega A. ABCA12 mutations in patients with autosomal recessive congenital ichthyosis: evidence of a founder effect in the Spanish population and phenotype-genotype implications. J Dermatol Sci. 2018 Sep;91(3):328-331. doi: 10.1016/j.jdermsci.2018.05.01 2. Epub 2018 Jun 5. PMID 29887490.
- Nawaz S, Tariq M, Ahmad I, Malik NA, Baig SM, Dahl N, Klar J. Non-bullous congentital ichthyosiform erythroderma associated with homozygosity for a novel missense mutation in an ATP binding domain of ABCA12. Eur J Dermatol. 2012 Mar-Apr;22(2):178-81. doi: 10.1684/ejd.2011.1638. PMID 22257947.
