UDP-glucose 4-epimerase [Homo sapiens]

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GALE variants associated with syndromic manifestations, macrothrombocytopenia, bleeding, and platelet dysfunction. [Platelets. 2023]
GALE variants associated with syndromic manifestations, macrothrombocytopenia, bleeding, and platelet dysfunction.
Marín-Quílez A, Di Buduo CA, Benito R, Balduini A, Rivera J, Bastida JM. Platelets. 2023 Dec; 34(1):2176699. Epub 2023 Feb 27.
Novel variants in GALE cause syndromic macrothrombocytopenia by disrupting glycosylation and thrombopoiesis. [Blood. 2023]
Novel variants in GALE cause syndromic macrothrombocytopenia by disrupting glycosylation and thrombopoiesis.
Marín-Quílez A, Di Buduo CA, Díaz-Ajenjo L, Abbonante V, Vuelta E, Soprano PM, Miguel-García C, Santos-Mínguez S, Serramito-Gómez I, Ruiz-Sala P, et al. Blood. 2023 Jan 26; 141(4):406-421.
Expansion of the clinical phenotype of GALE deficiency. [Am J Med Genet A. 2021]
Expansion of the clinical phenotype of GALE deficiency.
Markovitz R, Owen N, Satter LF, Kirk S, Mahoney DH, Bertuch AA, Scaglia F. Am J Med Genet A. 2021 Oct; 185(10):3118-3121. Epub 2021 Jun 22.

RefSeq genomic sequence
See the genomic reference sequence for the GALE gene (NG_007068.1).
RefSeq mRNA
See reference mRNA sequence for the GALE gene (NM_001008216.2).
RefSeq protein isoforms
See 3 reference sequence protein isoforms for the GALE gene.

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SNP
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NP_001008217 [Domain Mapping of Disease Mut...]
NP_001008217
Domain Mapping of Disease Mutations
Ensembl [Ensembl]
Ensembl
OncoMX cancer biomarker resource [OncoMX cancer biomarker resou...]
OncoMX cancer biomarker resource
Transcript/Protein Information [PANTHER Classification System]
Transcript/Protein Information
PANTHER Classification System
reagents [ExactAntigen/Labome]
reagents
ExactAntigen/Labome
Evolutionary Trace of Functional Site [Evolutionary Trace of Functio...]
Evolutionary Trace of Functional Site

AV281513 RIKEN full-length enriched, adult male testis (DH10B) Mus musculus cDNA...
AV281513 RIKEN full-length enriched, adult male testis (DH10B) Mus musculus cDNA clone 4933425A05 3', mRNA sequence
gi|6269550|gnl|dbEST|3390108|dbj|AV 3.1|

Nucleotide

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Protein