RecName: Full=Tyrosine-protein phosphatase non-receptor type 23; AltNa - Protein

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Phenotype and mutation expansion of the PTPN23 associated disorder characterized by neurodevelopmental delay and structural brain abnormalities. [Eur J Hum Genet. 2020]
Phenotype and mutation expansion of the PTPN23 associated disorder characterized by neurodevelopmental delay and structural brain abnormalities.
Bend R, Cohen L, Carter MT, Lyons MJ, Niyazov D, Mikati MA, Rojas SK, Person RE, Si Y, Wentzensen IM, et al. Eur J Hum Genet. 2020 Jan; 28(1):76-87. Epub 2019 Aug 8.
Developmental epileptic encephalopathy with hypomyelination and brain atrophy associated with PTPN23 variants affecting the assembly of UsnRNPs. [Eur J Hum Genet. 2018]
Developmental epileptic encephalopathy with hypomyelination and brain atrophy associated with PTPN23 variants affecting the assembly of UsnRNPs.
Smigiel R, Landsberg G, Schilling M, Rydzanicz M, Pollak A, Walczak A, Stodolak A, Stawinski P, Mierzewska H, Sasiadek MM, et al. Eur J Hum Genet. 2018 Oct; 26(10):1502-1511. Epub 2018 Jun 13.
Mutations of PTPN23 in developmental and epileptic encephalopathy. [Hum Genet. 2017]
Mutations of PTPN23 in developmental and epileptic encephalopathy.
Sowada N, Hashem MO, Yilmaz R, Hamad M, Kakar N, Thiele H, Arold ST, Bode H, Alkuraya FS, Borck G. Hum Genet. 2017 Nov; 136(11-12):1455-1461. Epub 2017 Oct 31.

RefSeq genomic sequence
See the genomic reference sequence for the PTPN23 gene (NG_051056.1).
RefSeq protein isoforms
See 4 reference sequence protein isoforms for the PTPN23 gene.

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Q9H3S7 [Domain Mapping of Disease Mut...]
Q9H3S7
Domain Mapping of Disease Mutations
Transcript/Protein Information [PANTHER Classification System]
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RecName: Full=Tyrosine-protein phosphatase non-receptor type 23; AltName: Full=H...
RecName: Full=Tyrosine-protein phosphatase non-receptor type 23; AltName: Full=His domain-containing protein tyrosine phosphatase; Short=HD-PTP; AltName: Full=Protein tyrosine phosphatase TD14; Short=PTP-TD14
gi|68053318|sp|Q9H3S7.1|PTN23_HUMAN

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