GLB1 |
- 30
Haplo
Score - 0
Triplo
Score
Gene Facts External Data Attribution
- HGNC Symbol
- GLB1 (HGNC:4298) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
- HGNC Name
- galactosidase beta 1
- Gene type
- protein-coding gene
- Locus type
- gene with protein product
- Previous symbols
- ELNR1
- Alias symbols
- EBP
- %HI
- 44.88(Read more about the DECIPHER Haploinsufficiency Index)
- pLI
- 0(Read more about gnomAD pLI score)
- LOEUF
- 0.94(Read more about gnomAD LOEUF score)
- Cytoband
- 3p22.3
- Genomic Coordinates
-
GRCh37/hg19: chr3:33038109-33138638 NCBI Ensembl UCSC GRCh38/hg38: chr3:32961108-33097146 NCBI Ensembl UCSC - MANE Select Transcript
- NM_000404.4 ENST00000307363.10 (Read more about MANE Select)
- Function
- [Isoform 1]: Cleaves beta-linked terminal galactosyl residues from gangliosides, glycoproteins, and glycosaminoglycans. {ECO:0000269|PubMed:15714521, ECO:0000269|PubMed:19472408, ECO:0000269|PubMed:2511208, ECO:0000269|PubMed:25936995, ECO:0000269|PubMed:8200356}. [Isoform 2]: Has no beta-galactosidase catalytic activity, but plays functional roles in the formation of extracellular elastic fibers (elastogenesis) and in the development of connective tissue. Seems to be identical to the elastin-bi... (Source: Uniprot)
Dosage Sensitivity Summary (Gene)
Dosage ID:
ISCA-36164
ClinGen Curation ID:
CCID:007215
Curation Status:
Complete
Issue Type:
Dosage Curation -
Gene
Haploinsufficiency:
Gene Associated with Autosomal Recessive Phenotype
(30)
Triplosensitivity:
No Evidence for Triplosensitivity
(0)
Last Evaluated:
03/25/2015
Haploinsufficiency (HI) Score Details
HI Score:
30
HI Evidence Strength:
Gene Associated with Autosomal Recessive Phenotype
(Disclaimer)
HI Disease:
- GM1 gangliosidosis Monarch
HI Evidence Comments:
Biallelic variants in GLB1 have been reported in individuals with GM1-gangliosidosis and individuals with mucopolysaccharidosis type IVB. For more information, please see OMIM.
Triplosensitivity (TS) Score Details
TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)
Genomic View
Select assembly:
(NC_000003.11)
(NC_000003.12)