Homo sapiens coenzyme Q7, hydroxylase (COQ7), transcript variant 5, mR - Nucleotide

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Phenotypic, molecular, and functional characterization of COQ7-related primary CoQ(10) deficiency: Hypomorphic variants and two distinct disease entities. [Mol Genet Metab. 2023]
Phenotypic, molecular, and functional characterization of COQ7-related primary CoQ(10) deficiency: Hypomorphic variants and two distinct disease entities.
Wongkittichote P, Duque Lasio ML, Magistrati M, Pathak S, Sample B, Carvalho DR, Ortega AB, Castro MAA, de Gusmao CM, Toler TL, et al. Mol Genet Metab. 2023 Aug; 139(4):107630. Epub 2023 Jun 22.
Biallelic variants in COQ7 cause distal hereditary motor neuropathy with upper motor neuron signs. [Brain. 2023]
Biallelic variants in COQ7 cause distal hereditary motor neuropathy with upper motor neuron signs.
Rebelo AP, Tomaselli PJ, Medina J, Wang Y, Dohrn MF, Nyvltova E, Danzi MC, Garrett M, Smith SE, Pestronk A, et al. Brain. 2023 Oct 3; 146(10):4191-4199.
Novel Homozygous Variant in COQ7 in Siblings With Hereditary Motor Neuropathy. [Neurol Genet. 2023]
Novel Homozygous Variant in COQ7 in Siblings With Hereditary Motor Neuropathy.
Smith IC, Pileggi CA, Wang Y, Kernohan K, Hartley T, McMillan HJ, Sampaio ML, Melkus G, Woulfe J, Parmar G, et al. Neurol Genet. 2023 Feb; 9(1):e200048. Epub 2023 Jan 25.

RefSeq alternative splicing
See 14 reference mRNA sequence splice variants for the COQ7 gene.
RefSeq protein product
See the reference protein sequence for 5-demethoxyubiquinone hydroxylase, mitochondrial isoform 5 (NP_001357420.1).

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Protein sequence from Nucleotide coding region
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Nucleotide