 |
GK |
- 3
Haplo
Score - 0
Triplo
Score
Gene Facts External Data Attribution
- HGNC Symbol
- GK (HGNC:4289) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
- HGNC Name
- glycerol kinase
- Gene type
- protein-coding gene
- Locus type
- gene with protein product
- Previous symbols
- No previous names found
- Alias symbols
- GK1, GKD
- %HI
- 11.79(Read more about the DECIPHER Haploinsufficiency Index)
- pLI
- 0.99(Read more about gnomAD pLI score)
- LOEUF
- 0.29(Read more about gnomAD LOEUF score)
- Cytoband
- Xp21.2
- Genomic Coordinates
-
GRCh37/hg19: chrX:30671540-30749579 NCBI Ensembl UCSC GRCh38/hg38: chrX:30653423-30731462 NCBI Ensembl UCSC - MANE Select Transcript
- NM_001205019.2 ENST00000427190.6 (Read more about MANE Select)
- Function
- Kinase that plays a key role in glycerol metabolism, catalyzing its phosphorylation to produce sn-glycerol 3-phosphate. Sn- glycerol 3-phosphate is a crucial intermediate in various metabolic pathways, such as the synthesis of glycerolipids and triglycerides, glycogenesis, glycolysis and gluconeogenesis. {ECO:0000269|PubMed:15845384, ECO:0000269|PubMed:37021775}. (Source: Uniprot)
Dosage Sensitivity Summary (Gene)
Haploinsufficiency (HI) Score Details
- inborn glycerol kinase deficiency Monarch
-
PUBMED:
8651297
Walker et al. (1996) report mutations in GK in 3 families with isolated GK deficiency. Pt 1 had no GK activity, but was in good health. A splice site mutation resulting in a premature stop codon was identified. Pts 2 & 3 were brothers with a deletion of exon 17. Pt 2 had a more severe phenotype, including growth and psychomotor retardation delay, bone dysplasia, and seizures, while Pt 3 had normal development. Pt 4 had ID and a missense mutation was identified (D440V).
-
PUBMED:
9719371
Sjarif et al. (1998) report mutations in GK in 3 families with isolated GK deficiency. The phenotypes varied greatly among the probands, though all had GK deficiency. The reported mutations included a 20 kb deletion near the 3' end of the gene, a nonsense mutation (R413X), and a missense change (W503R).
-
PUBMED:
10851254
Sargent et al. (2000) report 5 mutations in GK in patients with isolated GK deficiency, including two nonsense changes (R310X and Q403X).
The loss-of-function and triplosensitivity ratings for genes on the X chromosome are made in the context of a male genome to account for the effects of hemizygous duplications or nullizygous deletions. In contrast, disruption of some genes on the X chromosome causes male lethality and the ratings of dosage sensitivity instead take into account the phenotype in female individuals. Factors that may affect the severity of phenotypes associated with X-linked disorders include the presence of variable copies of the X chromosome (i.e. 47,XXY or 45,X) and skewed X-inactivation in females.
Triplosensitivity (TS) Score Details
The loss-of-function and triplosensitivity ratings for genes on the X chromosome are made in the context of a male genome to account for the effects of hemizygous duplications or nullizygous deletions. In contrast, disruption of some genes on the X chromosome causes male lethality and the ratings of dosage sensitivity instead take into account the phenotype in female individuals. Factors that may affect the severity of phenotypes associated with X-linked disorders include the presence of variable copies of the X chromosome (i.e. 47,XXY or 45,X) and skewed X-inactivation in females.
