B4GALT7

  • 30
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
B4GALT7 (HGNC:930) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
beta-1,4-galactosyltransferase 7
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
No previous names found
Alias symbols
XGALT-1, beta4Gal-T7
%HI
41.46(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0(Read more about gnomAD pLI score)
LOEUF
1.11(Read more about gnomAD LOEUF score)
Cytoband
5q35.3
Genomic Coordinates
GRCh37/hg19: chr5:177027133-177037331 NCBI Ensembl UCSC
GRCh38/hg38: chr5:177600132-177610330 NCBI Ensembl UCSC
MANE Select Transcript
NM_007255.3 ENST00000029410.10 (Read more about MANE Select)
Function
Required for the biosynthesis of the tetrasaccharide linkage region of proteoglycans, especially for small proteoglycans in skin fibroblasts. {ECO:0000269|PubMed:24052259}. (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-26771
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:
  • Ehlers-Danlos syndrome, spondylodysplastic type, 1 Monarch

Triplosensitivity (TS) Score Details

TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)

Genomic View

Select assembly: (NC_000005.9) (NC_000005.10)