Homo sapiens NIPA like domain containing 4 (NIPAL4), transcript varian - Nucleotide

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Articles about the NIPAL4 gene

Expanding the molecular and clinical spectrum of autosomal recessive congenital ichthyosis caused by pathogenic variants in NIPAL4 and PNPLA1 and evaluation of novel therapeutic interventions. [J Eur Acad Dermatol Venereol. ...]
Expanding the molecular and clinical spectrum of autosomal recessive congenital ichthyosis caused by pathogenic variants in NIPAL4 and PNPLA1 and evaluation of novel therapeutic interventions.
Rossel SVJ, Clabbers JMK, Steijlen PM, van den Akker PC, Spuls PI, Middelkamp Hup MA, van Maarle MC, Vreeburg M, Bolling MC, van Geel M, et al. J Eur Acad Dermatol Venereol. 2023 Dec; 37(12):e1405-e1409. Epub 2023 Jul 24.
EZH2 depletion potentiates MYC degradation inhibiting neuroblastoma and small cell carcinoma tumor formation. [Nat Commun. 2022]
EZH2 depletion potentiates MYC degradation inhibiting neuroblastoma and small cell carcinoma tumor formation.
Wang L, Chen C, Song Z, Wang H, Ye M, Wang D, Kang W, Liu H, Qing G. Nat Commun. 2022 Jan 10; 13(1):12. Epub 2022 Jan 10.
Expanding the clinical phenotype associated with NIPAL4 mutation: Study of a Tunisian consanguineous family with erythrokeratodermia variabilis-Like Autosomal Recessive Congenital Ichthyosis. [PLoS One. 2021]
Expanding the clinical phenotype associated with NIPAL4 mutation: Study of a Tunisian consanguineous family with erythrokeratodermia variabilis-Like Autosomal Recessive Congenital Ichthyosis.
Charfeddine C, Laroussi N, Mkaouar R, Jouini R, Khayat O, Redissi A, Mosbah A, Dallali H, Chedly Debbiche A, Zaouak A, et al. PLoS One. 2021; 16(10):e0258777. Epub 2021 Oct 20.

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Reference sequence information

RefSeq protein product
See the reference protein sequence for magnesium transporter NIPA4 isoform 1 (NP_001092757.2).

More about the NIPAL4 gene

This gene likely encodes a membrane receptor. Mutations in this gene have been associated with autosomal recessive congenital ichthyosis. [p...
Also Known As: ARCI6, ICHTHYIN, ICHYN,...

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Protein sequence from Nucleotide coding region
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Homo sapiens NIPA like domain containing 4 (NIPAL4), transcript variant 1, mRNA
Homo sapiens NIPA like domain containing 4 (NIPAL4), transcript variant 1, mRNA
gi|1824615233|ref|NM_001099287.2|

Nucleotide
magnesium transporter NIPA4 isoform X1 [Homo sapiens]
magnesium transporter NIPA4 isoform X1 [Homo sapiens]
gi|2462602357|ref|XP_054208488.1|

Protein
Long-term octreotide treatment of neuroendocrine tumor cell line CNDT2.5
Long-term octreotide treatment of neuroendocrine tumor cell line CNDT2.5
Accession: GDS4330

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Related DataSets for GEO Profiles (Select 87922751) (1)
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Homo sapiens NIPA like domain containing 4 (NIPAL4), transcript variant 1, mRNA

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