3.A.1.211.8
AbcA12 Keratinocyte lipid transporter. Transports lipids in lamellar granules to the apical surface of granular layer keratinocytes. Extracellular lipids, including ceramide, are thought to be essential for skin barrier function. ABCA12 mutations underlie the three main types of autosomal recessive congenital ichthyoses: harlequin ichthyosis, lamellar ichthyosis and congenital ichthyosiform erythroderma. ABCA12 mutations lead to defective lipid transport via lamellar granules in the keratinocytes, resulting in malformation of the epidermal lipid barrier and ichthyosis phenotypes. Lipid transport by ABCA12 is indispensable for intact differentiation of keratinocytes (Akiyama, 2011). The mean ichthyosis severity score in TGM1- and ABCA12-mutated patients was significantly higher than in all other mutated genes (Diociaiuti et al. 2024).
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| Accession Number: | B9EKF0 |
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| Protein Name: | Gene model 1060, (NCBI) |
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| Length: | 753 |
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| Molecular Weight: | 88539.00 |
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| Species: | Mus musculus (Mouse) [10090] |
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| Substrate |
lipid, ceramide |
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[1] “The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).” The MGC Project Team et.al. 15489334
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1: MNPSGTIGVL EQNGEEHLAT PILGPSVHSD NPQERIQARR LRIAARQEAR RREALGEYLD
61: GKKESEEEQS KSYKQKEESR LKLTKLLLCG TELVTNIQVA ADVREIHRRV EEEETKRQRL
121: EKLENEVKTS QDKFDEITAK WEEGRRKRIP QELWEMLNSQ QVHCAELIED KNKLANELQQ
181: ELKIKDDQYV KDLKKQSEDI TLILERMEEQ VKNVMKNFRQ ELIHIEKAFE SERQELLSSN
241: KKKWERALQA HNAKELEYLT NRMKKVEDYE KQLNKQRVWD CEEYNTIKIK LEQDVQILEQ
301: QLQQMKATYQ LNQEKLEYNF QVLKKRDEES TVIKSQQKRK LNRLHDVVNN LRTKYTKQIR
361: QFQDDNQSLT SDYKRLVTQF KDLQKALRHF IIIDEEKFRE IWLMNEAEAK ELAQRAFDVD
421: RIIHSQHLGL PWNMPDLWFL NNVGPISLQQ QKSVTQILEE LLLQTEDEAT EAAMSEDEDY
481: MDLPNQISAK TTTKVLMLLC DESGFLIESK LLSLLHPLEK SECYLLRLDA IFSALAIEDE
541: DDLYKLVNFF LRYRAHRLSS AQASSSIHSN MERTSLMSAL ERLSLMSQTD KGSMVSKSDQ
601: EPTEQEDEQE GDNASLSSRE LEEQEDLSSP RFIHPNDVLK ILEAFVTGLK KPKDAQPVLK
661: LKKETRDNSK DTEYWESLAA VIPFFKQNLW DALYKALEKY YLVLTERAKL LMENESLEQQ
721: NAEMQSLLQQ YLQAKVNTEL QIPPTQGFRM PSK