AGK |
- 30
Haplo
Score - 0
Triplo
Score
Gene Facts External Data Attribution
- HGNC Symbol
- AGK (HGNC:21869) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
- HGNC Name
- acylglycerol kinase
- Gene type
- protein-coding gene
- Locus type
- gene with protein product
- Previous symbols
- MULK
- Alias symbols
- FLJ10842
- %HI
- 51.17(Read more about the DECIPHER Haploinsufficiency Index)
- pLI
- 0(Read more about gnomAD pLI score)
- LOEUF
- 0.92(Read more about gnomAD LOEUF score)
- Cytoband
- 7q34
- Genomic Coordinates
-
GRCh37/hg19: chr7:141251210-141355044 NCBI Ensembl UCSC GRCh38/hg38: chr7:141551410-141655244 NCBI Ensembl UCSC - MANE Select Transcript
- NM_018238.4 ENST00000649286.2 (Read more about MANE Select)
- Function
- Lipid kinase that can phosphorylate both monoacylglycerol and diacylglycerol to form lysophosphatidic acid (LPA) and phosphatidic acid (PA), respectively (PubMed:15939762). Does not phosphorylate sphingosine (PubMed:15939762). Phosphorylates ceramide (By similarity). Phosphorylates 1,2-dioleoylglycerol more rapidly than 2,3- dioleoylglycerol (By similarity). Independently of its lipid kinase activity, acts as a component of the TIM22 complex (PubMed:28712724, PubMed:28712726). The TIM22 complex ... (Source: Uniprot)
Dosage Sensitivity Summary (Gene)
Dosage ID:
ISCA-4011
ClinGen Curation ID:
CCID:006632
Curation Status:
Complete
Issue Type:
Dosage Curation -
Gene
Haploinsufficiency:
Gene Associated with Autosomal Recessive Phenotype
(30)
Triplosensitivity:
No Evidence for Triplosensitivity
(0)
Last Evaluated:
11/20/2014
Haploinsufficiency (HI) Score Details
HI Score:
30
HI Evidence Strength:
Gene Associated with Autosomal Recessive Phenotype
(Disclaimer)
HI Disease:
- Sengers syndrome Monarch
HI Evidence Comments:
Biallelic loss of function mutations in AGK are associated with Sengers syndrome, an autosomal recessive mitochondrial disorder characterized by congenital cataracts, hypertrophic cardiomyopathy, skeletal myopathy, exercise intolerance, and lactic acidosis. See PMIDs: 25208612, 23266196, 22284826.
There is also one report of three siblings with non-syndromic congenital cataracts with a homozygous splice site mutation, PMID:22415731.
Triplosensitivity (TS) Score Details
TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)
Genomic View
Select assembly:
(NC_000007.13)
(NC_000007.14)