RecName: Full=Peroxisomal membrane protein PEX14; AltName: Full=PTS1 r - Protein

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Autosomal dominant Zellweger spectrum disorder caused by de novo variants in PEX14 gene. [Genet Med. 2023]
Autosomal dominant Zellweger spectrum disorder caused by de novo variants in PEX14 gene.
Waterham HR, Koster J, Ebberink MS, Ješina P, Zeman J, Nosková L, Kmoch S, Devic P, Cheillan D, Wanders RJA, et al. Genet Med. 2023 Nov; 25(11):100944. Epub 2023 Jul 23.
First Japanese case of Zellweger syndrome with a mutation in PEX14. [Pediatr Int. 2015]
First Japanese case of Zellweger syndrome with a mutation in PEX14.
Komatsuzaki S, Ogawa E, Shimozawa N, Sakamoto O, Haginoya K, Uematsu M, Hasegawa Y, Matsubara Y, Ohura T. Pediatr Int. 2015 Dec; 57(6):1189-92. Epub 2015 Dec 2.
Identification of a novel PEX14 mutation in Zellweger syndrome. [J Med Genet. 2008]
Identification of a novel PEX14 mutation in Zellweger syndrome.
Huybrechts SJ, Van Veldhoven PP, Hoffman I, Zeevaert R, de Vos R, Demaerel P, Brams M, Jaeken J, Fransen M, Cassiman D. J Med Genet. 2008 Jun; 45(6):376-83. Epub 2008 Feb 19.

RefSeq genomic sequence
See the genomic reference sequence for the PEX14 gene (NG_008340.2).
RefSeq protein isoforms
See 19 reference sequence protein isoforms for the PEX14 gene.

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O75381 [Domain Mapping of Disease Mut...]
O75381
Domain Mapping of Disease Mutations
Transcript/Protein Information [PANTHER Classification System]
Transcript/Protein Information
PANTHER Classification System
Reactome [Reactome]
Reactome
reagents [ExactAntigen/Labome]
reagents
ExactAntigen/Labome
reagent reviews [ExactAntigen/Labome]
reagent reviews
ExactAntigen/Labome

RecName: Full=Peroxisomal membrane protein PEX14; AltName: Full=PTS1 receptor-do...
RecName: Full=Peroxisomal membrane protein PEX14; AltName: Full=PTS1 receptor-docking protein; AltName: Full=Peroxin-14; AltName: Full=Peroxisomal membrane anchor protein PEX14
gi|6919940|sp|O75381.1|PEX14_HUMAN

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