putative transferase CAF17, mitochondrial isoform 1 precursor [Homo sa - Protein

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Clinical, radiological, biochemical and molecular characterization of a new case with multiple mitochondrial dysfunction syndrome due to IBA57: Lysine and tryptophan metabolites as potential biomarkers. [Mol Genet Metab. 2023]
Clinical, radiological, biochemical and molecular characterization of a new case with multiple mitochondrial dysfunction syndrome due to IBA57: Lysine and tryptophan metabolites as potential biomarkers.
Wongkittichote P, Pantano C, Bogush E, Alves CAP, Hong X, He M, Demczko MM, Ganetzky RD, Goldstein A. Mol Genet Metab. 2023 Sep-Oct; 140(1-2):107710. Epub 2023 Oct 20.
Expanding the phenotype of IBA57 mutations: related leukodystrophy can remain asymptomatic. [J Hum Genet. 2018]
Expanding the phenotype of IBA57 mutations: related leukodystrophy can remain asymptomatic.
Hamanaka K, Miyatake S, Zerem A, Lev D, Blumkin L, Yokochi K, Fujita A, Imagawa E, Iwama K, Nakashima M, et al. J Hum Genet. 2018 Dec; 63(12):1223-1229. Epub 2018 Sep 27.
IBA57 mutations abrogate iron-sulfur cluster assembly leading to cavitating leukoencephalopathy. [Neurol Genet. 2017]
IBA57 mutations abrogate iron-sulfur cluster assembly leading to cavitating leukoencephalopathy.
Ishiyama A, Sakai C, Matsushima Y, Noguchi S, Mitsuhashi S, Endo Y, Hayashi YK, Saito Y, Nakagawa E, Komaki H, et al. Neurol Genet. 2017 Oct; 3(5):e184. Epub 2017 Sep 8.

RefSeq genomic sequence
See the genomic reference sequence for the IBA57 gene (NG_042231.1).
RefSeq mRNA
See reference mRNA sequence for the IBA57 gene (NM_001010867.4).

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Ensembl [Ensembl]
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GlyGen glycoinformatics resource [GlyGen glycoinformatics resou...]
GlyGen glycoinformatics resource
MODBASE, Database of Comparative Protein Structure Models (Sali Lab/UCSF) [MODBASE, Database of Comparat...]
MODBASE, Database of Comparative Protein Structure Models (Sali Lab/UCSF)
OncoMX cancer biomarker resource [OncoMX cancer biomarker resou...]
OncoMX cancer biomarker resource
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reagents [ExactAntigen/Labome]
reagents
ExactAntigen/Labome

putative transferase CAF17, mitochondrial isoform 1 precursor [Homo sapiens]
putative transferase CAF17, mitochondrial isoform 1 precursor [Homo sapiens]
gi|58197556|ref|NP_001010867.1|

Protein
Typhlosaurus vermis voucher KF 365 prolactin receptor (PRLR) gene, partial cds
Typhlosaurus vermis voucher KF 365 prolactin receptor (PRLR) gene, partial cds
gi|2432739886|gb|OM418979.1|

Nucleotide

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