unknown [Homo sapiens]

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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.
C2orf69 mutations disrupt mitochondrial function and cause a multisystem human disorder with recurring autoinflammation. [J Clin Invest. 2021]
C2orf69 mutations disrupt mitochondrial function and cause a multisystem human disorder with recurring autoinflammation.
Lausberg E, Gießelmann S, Dewulf JP, Wiame E, Holz A, Salvarinova R, van Karnebeek CD, Klemm P, Ohl K, Mull M, et al. J Clin Invest. 2021 Jun 15; 131(12).

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

Nucleotide
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Transcript/Protein Information [PANTHER Classification System]
Transcript/Protein Information
PANTHER Classification System
reagents [ExactAntigen/Labome]
reagents
ExactAntigen/Labome

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