Homo sapiens galactosylceramidase (GALC), transcript variant 11, mRNA

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A novel mutation in the GALC gene causes Krabbe disease accompanied with extensive Mongolian spots in a consanguineous family. [Neurol Sci. 2023]
A novel mutation in the GALC gene causes Krabbe disease accompanied with extensive Mongolian spots in a consanguineous family.
Jia W, Luo Y, Zhang T, Yang Y, Zhang X. Neurol Sci. 2023 Jul; 44(7):2605-2608. Epub 2023 Mar 15.
GALC variants affect galactosylceramidase enzymatic activity and risk of Parkinson's disease. [Brain. 2023]
GALC variants affect galactosylceramidase enzymatic activity and risk of Parkinson's disease.
Senkevich K, Zorca CE, Dworkind A, Rudakou U, Somerville E, Yu E, Ermolaev A, Nikanorova D, Ahmad J, Ruskey JA, et al. Brain. 2023 May 2; 146(5):1859-1872.
Galactosylceramidase deficiency and pathological abnormalities in cerebral white matter of Krabbe disease. [Neurobiol Dis. 2022]
Galactosylceramidase deficiency and pathological abnormalities in cerebral white matter of Krabbe disease.
Iacono D, Koga S, Peng H, Manavalan A, Daiker J, Castanedes-Casey M, Martin NB, Herdt AR, Gelb MH, Dickson DW, et al. Neurobiol Dis. 2022 Nov; 174:105862. Epub 2022 Sep 14.

RefSeq alternative splicing
See 12 reference mRNA sequence splice variants for the GALC gene.
RefSeq protein product
See the reference protein sequence for galactocerebrosidase isoform h (NP_001411006.1).