Homo sapiens chromosome 2 open reading frame 69 (C2orf69), mRNA; nucle - Nucleotide

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A novel biallelic frameshift variant in C2orf69 causing developmental regression, seizures, microcephaly, autistic features, and hypertonia. [Am J Med Genet A. 2023]
A novel biallelic frameshift variant in C2orf69 causing developmental regression, seizures, microcephaly, autistic features, and hypertonia.
Werren EA, Srinivasan VM, Gowda VK, Pandey A, Vaish S, Kabbur AR, Nandeesh BN, Srivastava A. Am J Med Genet A. 2023 Sep; 191(9):2446-2450. Epub 2023 Jun 20.
Loss of C2orf69 defines a fatal autoinflammatory syndrome in humans and zebrafish that evokes a glycogen-storage-associated mitochondriopathy. [Am J Hum Genet. 2021]
Loss of C2orf69 defines a fatal autoinflammatory syndrome in humans and zebrafish that evokes a glycogen-storage-associated mitochondriopathy.
Wong HH, Seet SH, Maier M, Gurel A, Traspas RM, Lee C, Zhang S, Talim B, Loh AYT, Chia CY, et al. Am J Hum Genet. 2021 Jul 1; 108(7):1356.
Loss of C2orf69 defines a fatal autoinflammatory syndrome in humans and zebrafish that evokes a glycogen-storage-associated mitochondriopathy. [Am J Hum Genet. 2021]
Loss of C2orf69 defines a fatal autoinflammatory syndrome in humans and zebrafish that evokes a glycogen-storage-associated mitochondriopathy.
Wong HH, Seet SH, Maier M, Gurel A, Traspas RM, Lee C, Zhang S, Talim B, Loh AYT, Chia CY, et al. Am J Hum Genet. 2021 Jul 1; 108(7):1301-1317. Epub 2021 May 25.

RefSeq protein product
See the reference protein sequence for mitochondrial protein C2orf69 precursor (NP_710156.3).

Protein
Protein sequence from Nucleotide coding region
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Taxonomy
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GenScript latest version of gene cDNA ORF Clone [GenScript latest version of g...]
GenScript latest version of gene cDNA ORF Clone
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Homo sapiens chromosome 2 open reading frame 69 (C2orf69), mRNA; nuclear gene fo...
Homo sapiens chromosome 2 open reading frame 69 (C2orf69), mRNA; nuclear gene for mitochondrial product
gi|1519316032|ref|NM_153689.6|

Nucleotide
BioProjects for Gene (Select 104127382) (2)
BioProject
Link to genomic records for Protein (Select 488958355) (176)
Nucleotide
TRMT1-like protein isoform 1 [Mus musculus]
TRMT1-like protein isoform 1 [Mus musculus]
gi|229608908|ref|NP_081152.2|

Protein
Nucleotide Links for Gene (Select 127891823) (5)
Nucleotide

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Nucleotide