peroxisomal biogenesis factor 12 [Homo sapiens]

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A founder mutation in PEX12 among Egyptian patients in peroxisomal biogenesis disorder. [Neurol Sci. 2021]
A founder mutation in PEX12 among Egyptian patients in peroxisomal biogenesis disorder.
Zaki MS, Issa MY, Thomas MM, Elbendary HM, Rafat K, Al Menabawy NM, Selim LA, Ismail S, Abdel-Salam GM, Gleeson JG. Neurol Sci. 2021 Jul; 42(7):2737-2745. Epub 2020 Oct 29.
A novel mutation in the PEX12 gene causing a peroxisomal biogenesis disorder. [Mol Biol Rep. 2015]
A novel mutation in the PEX12 gene causing a peroxisomal biogenesis disorder.
Konkoľová J, Petrovič R, Chandoga J, Halasová E, Jungová P, Böhmer D. Mol Biol Rep. 2015 Sep; 42(9):1359-63. Epub 2015 Jun 21.
Identification of the molecular defect in patients with peroxisomal mosaicism using a novel method involving culturing of cells at 40 degrees C: implications for other inborn errors of metabolism. [Hum Mutat. 2004]
Identification of the molecular defect in patients with peroxisomal mosaicism using a novel method involving culturing of cells at 40 degrees C: implications for other inborn errors of metabolism.
Gootjes J, Schmohl F, Mooijer PA, Dekker C, Mandel H, Topcu M, Huemer M, Von Schütz M, Marquardt T, Smeitink JA, et al. Hum Mutat. 2004 Aug; 24(2):130-9.

RefSeq genomic sequence
See the genomic reference sequence for the PEX12 gene (NG_008447.1).
RefSeq protein
See the reference protein sequence for peroxisome assembly protein 12 (NP_000277.1).

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Transcript/Protein Information [PANTHER Classification System]
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reagents [ExactAntigen/Labome]
reagents
ExactAntigen/Labome

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