• 30
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
GALK1 (HGNC:4118) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
galactokinase 1
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
GALK
Alias symbols
No aliases found
%HI
28.42(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0(Read more about gnomAD pLI score)
LOEUF
1.09(Read more about gnomAD LOEUF score)
Cytoband
17q25.1
Genomic Coordinates
GRCh37/hg19: chr17:73747550-73761273 NCBI Ensembl UCSC
GRCh38/hg38: chr17:75751469-75765192 NCBI Ensembl UCSC
MANE Select Transcript
NM_000154.2 ENST00000588479.6 (Read more about MANE Select)
Function
Catalyzes the transfer of a phosphate from ATP to alpha-D- galactose and participates in the first committed step in the catabolism of galactose. {ECO:0000269|PubMed:12694189, ECO:0000269|PubMed:7542884}. (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-6914
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:

Triplosensitivity (TS) Score Details

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

Genomic View

Select assembly: (NC_000017.10) (NC_000017.11)