magnesium transporter NIPA4 isoform 2 [Homo sapiens]

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Articles about the NIPAL4 gene

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.
Identification of a novel missense mutation in NIPAL4 gene: First 3D model construction predicted its pathogenicity. [Mol Genet Genomic Med. 2020]
Identification of a novel missense mutation in NIPAL4 gene: First 3D model construction predicted its pathogenicity.
Laadhar S, Ben Mansour R, Marrakchi S, Miled N, Ennouri M, Fischer J, Kaddechi MA, Turki H, Fakhfakh F. Mol Genet Genomic Med. 2020 Mar; 8(3):e1104. Epub 2019 Dec 26.
Genetical, clinical, and functional analysis of a large international cohort of patients with autosomal recessive congenital ichthyosis due to mutations in NIPAL4. [Hum Mutat. 2019]
Genetical, clinical, and functional analysis of a large international cohort of patients with autosomal recessive congenital ichthyosis due to mutations in NIPAL4.
Ballin N, Hotz A, Bourrat E, Küsel J, Oji V, Bouadjar B, Brognoli D, Hickman G, Heinz L, Vabres P, et al. Hum Mutat. 2019 Dec; 40(12):2318-2333. Epub 2019 Sep 6.

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Reference sequence information

RefSeq genomic sequence
See the genomic reference sequence for the NIPAL4 gene (NG_016626.1).
RefSeq mRNA
See reference mRNA sequence for the NIPAL4 gene (NM_001172292.2).
RefSeq protein isoforms
See 4 reference sequence protein isoforms for the NIPAL4 gene.

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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NP_001165763 [Domain Mapping of Disease Mut...]
NP_001165763
Domain Mapping of Disease Mutations
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synembryn-B isoform 4 [Homo sapiens]
synembryn-B isoform 4 [Homo sapiens]
gi|95113666|ref|NP_060627.2|

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Articles about the NIPAL4 gene

Reference sequence information

More about the NIPAL4 gene

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