Homo sapiens galactosylceramidase (GALC), transcript variant 1, 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 protein product
See the reference protein sequence for galactocerebrosidase isoform a precursor (NP_000144.2).

Protein
Protein sequence from Nucleotide coding region
PubMed
PubMed articles cited by Nucleotide sequence record
Taxonomy
Taxonomy sequences associated with Nucleotide record
Annotated Genomic
Genomic sequence records that have the current RNA records as annotated features marking the exons of genes.
BioSystems
BioSystems
CCDS
Link to Consensus CDS
Components (Core)
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Full text in PMC
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Functional Class
Functional class of the sequence domain architecture
Gene
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OMIM
OMIM records associated with Nucleotide sequence
Probe
Related Probe entry
PubMed (RefSeq)
Link to RefSeq PubMed articles
PubMed (Weighted)
Links to pubmed

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