chondroitin sulfate N-acetylgalactosaminyltransferase 1 [Homo sapiens]

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CSGALNACT1-congenital disorder of glycosylation: A mild skeletal dysplasia with advanced bone age. [Hum Mutat. 2020]
CSGALNACT1-congenital disorder of glycosylation: A mild skeletal dysplasia with advanced bone age.
Mizumoto S, Janecke AR, Sadeghpour A, Povysil G, McDonald MT, Unger S, Greber-Platzer S, Deak KL, Katsanis N, Superti-Furga A, et al. Hum Mutat. 2020 Mar; 41(3):655-667. Epub 2019 Dec 3.
Biallelic CSGALNACT1-mutations cause a mild skeletal dysplasia. [Bone. 2019]
Biallelic CSGALNACT1-mutations cause a mild skeletal dysplasia.
Meyer R, Schacht S, Buschmann L, Begemann M, Kraft F, Haag N, Kochs A, Schulze A, Kurth I, Elbracht M. Bone. 2019 Oct; 127:446-451. Epub 2019 Jul 17.
Insights in the etiopathology of galactosyltransferase II (GalT-II) deficiency from transcriptome-wide expression profiling of skin fibroblasts of two sisters with compound heterozygosity for two novel B3GALT6 mutations. [Mol Genet Metab Rep. 2015]
Insights in the etiopathology of galactosyltransferase II (GalT-II) deficiency from transcriptome-wide expression profiling of skin fibroblasts of two sisters with compound heterozygosity for two novel B3GALT6 mutations.
Ritelli M, Chiarelli N, Zoppi N, Dordoni C, Quinzani S, Traversa M, Venturini M, Calzavara-Pinton P, Colombi M. Mol Genet Metab Rep. 2015 Mar; 2:1-15. Epub 2014 Nov 20.

RefSeq mRNA
See reference mRNA sequence for the CSGALNACT1 gene (NM_001354498.2).
RefSeq protein isoforms
See 85 reference sequence protein isoforms for the CSGALNACT1 gene.

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SNP
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Homo sapiens eukaryotic translation initiation factor 3 subunit K (EIF3K), trans...
Homo sapiens eukaryotic translation initiation factor 3 subunit K (EIF3K), transcript variant 1, mRNA
gi|1653961016|ref|NM_013234.4|

Nucleotide
HicA family toxin [uncultured Alphaproteobacteria bacterium]
HicA family toxin [uncultured Alphaproteobacteria bacterium]
gi|1285905162|gnl|FidelitySystems|P 8|gb|ATZ76337.1|

Protein
MULTISPECIES: hypothetical protein [Burkholderiales]
MULTISPECIES: hypothetical protein [Burkholderiales]
gi|500205386|ref|WP_011875610.1|

Protein
FAD-dependent oxidoreductase [Noviherbaspirillum pedocola]
FAD-dependent oxidoreductase [Noviherbaspirillum pedocola]
gi|1956819394|ref|WP_200597085.1|

Protein
phenylacetate-CoA oxygenase subunit PaaA [uncultured Alphaproteobacteria bacteri...
phenylacetate-CoA oxygenase subunit PaaA [uncultured Alphaproteobacteria bacterium]
gi|1285905148|gnl|FidelitySystems|P 3|gb|ATZ76323.1|

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