GenTIGS

Galactosylceramidase (GALC) Associated conditions: 1. Spastic ataxia

mRNA Information: Transcript Variants and Protein Isoforms

SNo.	Status	mRNA accession	Protein accession	Genomic DNA accession (Chromosome)	mRNA location on genomic DNA	Assembly	UniProtkb ID
1	REVIEWED	NM_000153.4	NP_000144.2	NC_000014.9	(87933013..87993664, complement)	Reference GRCh38.p14 Primary Assembly	P54803
2	REVIEWED	NM_001201401.2	NP_001188330.1	NC_000014.9	(87933013..87993664, complement)	Reference GRCh38.p14 Primary Assembly	P54803
3	REVIEWED	NM_001201402.2	NP_001188331.1	NC_000014.9	(87933013..87993664, complement)	Reference GRCh38.p14 Primary Assembly	P54803

Transcript variants arise from alternative splicing during gene expression, producing multiple mRNA transcripts from a single gene, each encoding distinct protein isoforms.

PubMed Links for Transcript Variants (Isoforms)

Link 184 reference articles

Variant Information Galactosylceramidase (GALC) Mutation Visualization Dashboard: Pathogenic variant distribution chart

IndiGenomes variants: Exploring and mapping pathogenic variants in gene Galactosylceramidase (GALC)

ClinVar variants:Revealing mutagenic patterns

GO Term of Galactosylceramidase (GALC)

SNo.	Reported in speceis	Evidence	Qualifier	GO term	Category	Pubmed Link
1	Homo sapiens	IBA	enables	galactosylceramidase activity	Function	21873635
2	Homo sapiens	IDA	enables	galactosylceramidase activity	Function	8281145 8399327
3	Homo sapiens	ISS	enables	galactosylceramidase activity	Function	-
4	Homo sapiens	TAS	enables	galactosylceramidase activity	Function	-
5	Homo sapiens	IBA	is_active_in	lysosome	Component	21873635
6	Homo sapiens	IBA	involved_in	galactosylceramide catabolic process	Process	21873635
7	Homo sapiens	IDA	involved_in	galactosylceramide catabolic process	Process	8399327
8	Homo sapiens	ISS	involved_in	galactosylceramide catabolic process	Process	-
9	Homo sapiens	TAS	involved_in	glycosphingolipid metabolic process	Process	-
10	Homo sapiens	IEA	involved_in	myelination	Process	-
11	Homo sapiens	TAS	located_in	lysosomal lumen	Component	-