Homo sapiens chloride voltage-gated channel 7 (CLCN7), transcript vari - Nucleotide

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Multisystem disorder associated with a pathogenic variant in CLCN7 in the absence of osteopetrosis. [Mol Genet Genomic Med. 2024]
Multisystem disorder associated with a pathogenic variant in CLCN7 in the absence of osteopetrosis.
Lee CL, Chang YW, Lin HY, Lee HC, Yeh TC, Fang LC, Lee NC, Tsai JD, Lin SP. Mol Genet Genomic Med. 2024 Jul; 12(7):e2494.
Gain-of-function variants in CLCN7 cause hypopigmentation and lysosomal storage disease. [J Biol Chem. 2024]
Gain-of-function variants in CLCN7 cause hypopigmentation and lysosomal storage disease.
Polovitskaya MM, Rana T, Ullrich K, Murko S, Bierhals T, Vogt G, Stauber T, Kubisch C, Santer R, Jentsch TJ. J Biol Chem. 2024 Jul; 300(7):107437. Epub 2024 Jun 3.
Impaired Autophagic Clearance with a Gain-of-Function Variant of the Lysosomal Cl(-)/H(+) Exchanger ClC-7. [Biomolecules. 2023]
Impaired Autophagic Clearance with a Gain-of-Function Variant of the Lysosomal Cl(-)/H(+) Exchanger ClC-7.
Bose S, de Heus C, Kennedy ME, Wang F, Jentsch TJ, Klumperman J, Stauber T. Biomolecules. 2023 Dec 15; 13(12). Epub 2023 Dec 15.

RefSeq alternative splicing
See 4 reference mRNA sequence splice variants for the CLCN7 gene.
RefSeq protein product
See the reference protein sequence for H(+)/Cl(-) exchange transporter 7 isoform a (NP_001278.1).

Protein
Protein sequence from Nucleotide coding region
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RecName: Full=Actin-related protein 5
RecName: Full=Actin-related protein 5
gi|408360318|sp|Q80US4.3|ARP5_MOUSE

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Nucleotide