Ask about this productRelated genes to: ABCA12 Blocking Peptide
- Gene:
- ABCA12 NIH gene
- Name:
- ATP binding cassette subfamily A member 12
- Previous symbol:
- ICR2B
- Synonyms:
- DKFZP434G232, LI2
- Chromosome:
- 2q35
- Locus Type:
- gene with protein product
- Date approved:
- 2001-08-16
- Date modifiied:
- 2016-10-05
Related products to: ABCA12 Blocking Peptide
Related articles to: ABCA12 Blocking Peptide
- Harlequin ichthyosis is a rare, life-threatening neonatal dermatologic emergency that can be confidently diagnosed clinically at birth. Prompt recognition and early supportive management-including thermoregulation, fluid balance, infection prevention, and intensive skin care-are crucial determinants of survival, especially in low-resource settings where diagnostic and therapeutic options are limited. - Source: PubMed
Publication date: 2026/04/27
Elendu ChukwukaAmaechi Dependable CElendu Tochi CAmaechi Emmanuel CElendu Ijeoma DOkolo Emeka HUyanwune Mbanefo C - Auricular dysplasia is a common fetal anomaly. Despite existing studies in postnatal populations, there remains a paucity of prenatal data on genetic etiology and prognostic analysis for this condition. This study aimed to analyze the genetic etiology and associated postnatal outcomes of auricular dysplasia, in order to provide guidance for prenatal genetic counseling. - Source: PubMed
Publication date: 2026/04/15
Zhu YuanhangHan XiaoOuyang XuezheChu TiantianLi NaiqiYang JieCheng XinLiu Ling - Harlequin ichthyosis (HI) is considered one of the rarest and most severe congenital disorders, characterized by the development of thick, plate-like scales, ectropion, eclabium, and multi-system complications that mainly cause high neonatal mortality. - Source: PubMed
Publication date: 2026/01/30
Kurdi AhmedAlahmadi MohammedAlghamdi SaraAlbejawi LayanAlghamdi LamaAlmutairi FedahAlzahrani MohammedAlmutairi Layan - Meibomian glands (MGs) in the eyelid secrete lipids that stabilize the tear film and protect the ocular surface. Abnormal MGs are associated with dry eye disease (DED), one of the most common ophthalmological disorders, but the molecular alterations underlying DED remain unclear. For most patients, DED is thought to be caused by the failure of MG-derived lipids to exit the gland due to hyperkeratinization-induced ductal obstruction; however, this theory has been difficult to test due to a lack of mouse models that recapitulate this phenotype. Here, we show that the MG central duct is lined by terminally differentiated cells that express Keratin 6, Keratin 79 and Abca12, a lipid transporter that promotes desquamation in the skin. Targeted genetic disruption of Abca12 in Keratin 6+ ductal cells causes a transient dry eye phenotype that is associated with severe hyperkeratosis and lipid retention specifically in the MG central duct. These findings demonstrate that constant desquamation is required to prevent MG ductal obstruction, and suggest that factors that modulate DED pathogenesis, including age, environment, inflammation and behavior, may converge on Abca12. - Source: PubMed
Publication date: 2026/03/16
Gardon Danielle JLiu Che-JuiVeniaminova Natalia AKaartinen VesaWong Sunny Y - - Source: PubMed
Publication date: 2026/03/02
Er IlkayCitli SenolBektas DilekBankoglu Yildirim HaticeUnal Ege