RecName: Full=Phospholipid-transporting ATPase ABCA3; AltName: Full=AB - Protein

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Evaluation of the Copy Number Variants and Single-Nucleotide Polymorphisms of ABCA3 in Newborns with Respiratory Distress Syndrome-A Pilot Study. [Medicina (Kaunas). 2024]
Evaluation of the Copy Number Variants and Single-Nucleotide Polymorphisms of ABCA3 in Newborns with Respiratory Distress Syndrome-A Pilot Study.
Anciuc-Crauciuc M, Cucerea MC, Crauciuc GA, Tripon F, Bănescu CV. Medicina (Kaunas). 2024 Feb 29; 60(3). Epub 2024 Feb 29.
Human pluripotent stem cell modeling of alveolar type 2 cell dysfunction caused by ABCA3 mutations. [J Clin Invest. 2024]
Human pluripotent stem cell modeling of alveolar type 2 cell dysfunction caused by ABCA3 mutations.
Sun YL, Hennessey EE, Heins H, Yang P, Villacorta-Martin C, Kwan J, Gopalan K, James M, Emili A, Cole FS, et al. J Clin Invest. 2024 Jan 16; 134(2). Epub 2024 Jan 16.
Interstitial lung disease in a family with bi-allelic variants in ABCA3: non-specific interstitial pneumonitis pattern of injury. [Pathology. 2024]
Interstitial lung disease in a family with bi-allelic variants in ABCA3: non-specific interstitial pneumonitis pattern of injury.
El Demellawy D, Kovesi T, Gowans R, Oltean I, Huang L, White-Brown A, Sawyer SL. Pathology. 2024 Feb; 56(1):104-107. Epub 2023 Aug 19.

RefSeq genomic sequence
See the genomic reference sequence for the ABCA3 gene (NG_011790.2).
RefSeq protein
See the reference protein sequence for phospholipid-transporting ATPase ABCA3 (NP_001080.2).

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Q99758 [Domain Mapping of Disease Mut...]
Q99758
Domain Mapping of Disease Mutations
Transcript/Protein Information [PANTHER Classification System]
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reagents [ExactAntigen/Labome]
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RecName: Full=Phospholipid-transporting ATPase ABCA3; AltName: Full=ABC-C transp...
RecName: Full=Phospholipid-transporting ATPase ABCA3; AltName: Full=ABC-C transporter; AltName: Full=ATP-binding cassette sub-family A member 3; AltName: Full=ATP-binding cassette transporter 3; Short=ATP-binding cassette 3; AltName: Full=Xenobiotic-transporting ATPase ABCA3; Contains: RecName: Full=150 Kda mature form
gi|85700402|sp|Q99758.2|ABCA3_HUMAN

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