Homo sapiens chromosome 19 open reading frame 12 (C19orf12), transcrip - Nucleotide

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A novel C19ORF12 mutation in two MPAN sisters treated with deferiprone. [BMC Neurol. 2023]
A novel C19ORF12 mutation in two MPAN sisters treated with deferiprone.
Chen S, Lai X, Fu J, Yang J, Zhao B, Shang H, Huang R, Chen X. BMC Neurol. 2023 Mar 31; 23(1):134. Epub 2023 Mar 31.
A novel C19orf12 frameshift mutation in a MPAN pedigree impairs mitochondrial function and connectivity leading to neurodegeneration. [Parkinsonism Relat Disord. 2023]
A novel C19orf12 frameshift mutation in a MPAN pedigree impairs mitochondrial function and connectivity leading to neurodegeneration.
Chen HY, Lin HI, Hsu CL, Chen PL, Huang CY, Teng SC, Lin CH. Parkinsonism Relat Disord. 2023 Apr; 109:105353. Epub 2023 Feb 27.
Two cases with mitochondrial membrane protein-associated neurodegeneration: genetic features and long-term clinical follow-up. [Neurocase. 2022]
Two cases with mitochondrial membrane protein-associated neurodegeneration: genetic features and long-term clinical follow-up.
Mercan S, Ugur Iseri SA, Yigiter R, Akcakaya NH, Saka E, Yapici Z. Neurocase. 2022 Feb; 28(1):37-41. Epub 2022 Feb 20.

RefSeq alternative splicing
See 14 reference mRNA sequence splice variants for the C19orf12 gene.

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Protein sequence from Nucleotide coding region
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Homo sapiens ribosomal protein L8 (RPL8), transcript variant 2, mRNA
Homo sapiens ribosomal protein L8 (RPL8), transcript variant 2, mRNA
gi|1677498464|ref|NM_033301.3|

Nucleotide

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Nucleotide