TGM5 Chromosome 15
Transglutaminase 5
Upload your DNA to see your personal genotypes for variants in TGM5.
What This Gene Does
This gene encodes a member of the transglutaminase family. The encoded protein catalyzes formation of protein cross-links between glutamine and lysine residues, often resulting in stabilization of protein assemblies. This reaction is calcium dependent. Mutations in this gene have been associated with acral peeling skin syndrome. [provided by RefSeq, Oct 2009]
Gene Info
Gene Group
Transglutaminases
Locus Type
gene with protein product
Location
15q15.2
Ensembl
ENSG00000104055
Associated Conditions (4)
Acral peeling skin syndrome
TGM5-related disorder
Inborn genetic diseases
Peeling skin syndrome 1
Key Variants
RS141734428
Conflicting classifications of pathogenicity
Acral peeling skin syndrome, TGM5-related disorder, Acral peeling skin syndrome
Health Risk
RS141830093
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS143722994
Conflicting classifications of pathogenicity
Acral peeling skin syndrome, Inborn genetic diseases, Acral peeling skin syndrome
Health Risk
RS148226418
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS148913728
Conflicting classifications of pathogenicity
Acral peeling skin syndrome, TGM5-related disorder, Acral peeling skin syndrome
Health Risk
RS35578968
Conflicting classifications of pathogenicity
Acral peeling skin syndrome, TGM5-related disorder, Inborn genetic diseases
Health Risk
RS375801160
Conflicting classifications of pathogenicity
Acral peeling skin syndrome, Acral peeling skin syndrome
Health Risk
RS606231276
Conflicting classifications of pathogenicity
Acral peeling skin syndrome, Acral peeling skin syndrome
Health Risk
RS764448893
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1045182796
Likely pathogenic
Acral peeling skin syndrome, Acral peeling skin syndrome
Health Risk
RS1451315165
Likely pathogenic
Acral peeling skin syndrome, Acral peeling skin syndrome
Health Risk
RS2142390360
Likely pathogenic
Acral peeling skin syndrome, Acral peeling skin syndrome
Health Risk
All Variants (25)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS141734428 | Health Risk | Conflicting classifications of pathogenicity | Acral peeling skin syndrome, TGM5-related disorder, Acral peeling skin syndrome |
| RS141830093 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS143722994 | Health Risk | Conflicting classifications of pathogenicity | Acral peeling skin syndrome, Inborn genetic diseases, Acral peeling skin syndrome |
| RS148226418 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS148913728 | Health Risk | Conflicting classifications of pathogenicity | Acral peeling skin syndrome, TGM5-related disorder, Acral peeling skin syndrome |
| RS35578968 | Health Risk | Conflicting classifications of pathogenicity | Acral peeling skin syndrome, TGM5-related disorder, Inborn genetic diseases |
| RS375801160 | Health Risk | Conflicting classifications of pathogenicity | Acral peeling skin syndrome, Acral peeling skin syndrome |
| RS606231276 | Health Risk | Conflicting classifications of pathogenicity | Acral peeling skin syndrome, Acral peeling skin syndrome |
| RS764448893 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS1045182796 | Health Risk | Likely pathogenic | Acral peeling skin syndrome, Acral peeling skin syndrome |
| RS1451315165 | Health Risk | Likely pathogenic | Acral peeling skin syndrome, Acral peeling skin syndrome |
| RS2142390360 | Health Risk | Likely pathogenic | Acral peeling skin syndrome, Acral peeling skin syndrome |
| RS2542636329 | Health Risk | Likely pathogenic | Acral peeling skin syndrome, Acral peeling skin syndrome |
| RS755087362 | Health Risk | Likely pathogenic | Peeling skin syndrome 1, Peeling skin syndrome 1 |
| RS755448082 | Health Risk | Likely pathogenic | Acral peeling skin syndrome, Acral peeling skin syndrome |
| RS774897097 | Health Risk | Likely pathogenic | — |
| RS112292549 | Health Risk | Pathogenic | Acral peeling skin syndrome, Inborn genetic diseases, TGM5-related disorder |
| RS606231277 | Health Risk | Pathogenic | Acral peeling skin syndrome, Peeling skin syndrome 1, Acral peeling skin syndrome |
| RS606231278 | Health Risk | Pathogenic | Acral peeling skin syndrome, Acral peeling skin syndrome |
| RS748610718 | Health Risk | Pathogenic | Acral peeling skin syndrome, Acral peeling skin syndrome |
| RS749224503 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS758505358 | Health Risk | Pathogenic | — |
| RS773680472 | Health Risk | Pathogenic | — |
| RS115677373 | Health Risk | Pathogenic/Likely pathogenic | Acral peeling skin syndrome, Acral peeling skin syndrome |
| RS778322388 | Health Risk | Pathogenic/Likely pathogenic | Acral peeling skin syndrome, Acral peeling skin syndrome |