TGM1
  • 30
    Haplo
    Score
  • -5
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
TGM1 (HGNC:11777) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
transglutaminase 1
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
ICR2
Alias symbols
TGASE, TGK, LI, LI1
%HI
48.02(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0(Read more about gnomAD pLI score)
LOEUF
0.85(Read more about gnomAD LOEUF score)
Cytoband
14q12
Genomic Coordinates
GRCh37/hg19: chr14:24718320-24732383 NCBI Ensembl UCSC
GRCh38/hg38: chr14:24249114-24263177 NCBI Ensembl UCSC
MANE Select Transcript
NM_000359.3 ENST00000206765.11 (Read more about MANE Select)
Function
Catalyzes the cross-linking of proteins and the conjugation of polyamines to proteins. Responsible for cross-linking epidermal proteins during formation of the stratum corneum. Involved in cell proliferation (PubMed:26220141). {ECO:0000269|PubMed:26220141}. (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-25264
ClinGen Curation ID:
CCID:008002
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
Gene Associated with Autosomal Recessive Phenotype (30)
Read full report...
Triplosensitivity:
Not Yet Evaluated
Read full report...
Last Evaluated:
08/22/2016

Haploinsufficiency (HI) Score Details

HI Score:
30
HI Evidence Strength:
Gene Associated with Autosomal Recessive Phenotype (Disclaimer)
HI Disease:
  • autosomal recessive congenital ichthyosis 1 Monarch

Triplosensitivity (TS) Score Details

TS Evidence Strength:
Not Yet Evaluated (Disclaimer)

Genomic View

Select assembly: (NC_000014.8) (NC_000014.9)