B3GALT6 |
- 30
Haplo
Score - 0
Triplo
Score
Gene Facts External Data Attribution
- HGNC Symbol
- B3GALT6 (HGNC:17978) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
- HGNC Name
- beta-1,3-galactosyltransferase 6
- Gene type
- protein-coding gene
- Locus type
- gene with protein product
- Previous symbols
- No previous names found
- Alias symbols
- beta3GalT6
- %HI
- 73.2(Read more about the DECIPHER Haploinsufficiency Index)
- pLI
- 0.02(Read more about gnomAD pLI score)
- LOEUF
- 1.43(Read more about gnomAD LOEUF score)
- Cytoband
- 1p36.33
- Genomic Coordinates
-
GRCh37/hg19: chr1:1167617-1170421 NCBI Ensembl UCSC GRCh38/hg38: chr1:1232237-1235041 NCBI Ensembl UCSC - MANE Select Transcript
- NM_080605.4 ENST00000379198.5 (Read more about MANE Select)
- Function
- Beta-1,3-galactosyltransferase that transfers galactose from UDP-galactose to substrates with a terminal beta-linked galactose residue. Has a preference for galactose-beta-1,4-xylose that is found in the linker region of glycosaminoglycans, such as heparan sulfate and chondroitin sulfate. Has no activity towards substrates with terminal glucosamine or galactosamine residues. {ECO:0000269|PubMed:11551958, ECO:0000269|PubMed:23664117, ECO:0000269|PubMed:29443383}. (Source: Uniprot)
Dosage Sensitivity Summary (Gene)
Dosage ID:
ISCA-4534
Curation Status:
Complete
Issue Type:
Dosage Curation -
Gene
Haploinsufficiency:
Gene Associated with Autosomal Recessive Phenotype
(30)
Triplosensitivity:
No Evidence for Triplosensitivity
(0)
Last Evaluated:
08/22/2016
Haploinsufficiency (HI) Score Details
HI Score:
30
HI Evidence Strength:
Gene Associated with Autosomal Recessive Phenotype
(Disclaimer)
HI Disease:
- spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures Monarch
HI Evidence Comments:
Biallelic variants have been reported in individuals with Al-Gazali syndrome, Ehlers-Danlos syndrome, spondylodysplastic type, 2, and spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures per OMIM.
Triplosensitivity (TS) Score Details
TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)
Genomic View
Select assembly:
(NC_000001.10)
(NC_000001.11)