TGM1 Gene (Protein Coding)

Transglutaminase 1

GC14M024249
GIFtS:
46
The protein encoded by this gene is a membrane protein that catalyzes the addition of an alkyl group from an akylamine to a glutamine residue of a protein, forming an alkylglutamine in the protein. This protein alkylation leads to crosslinking of proteins and catenation of polyamines to proteins. This gene contains either one or two copies of a 22 nt repeat unit in its 3' UTR. ... See more...

Aliases for TGM1 Gene

Aliases for TGM1 Gene

  • Transglutaminase 1 2 3 5
  • TGK 2 3 4
  • K Polypeptide Epidermal Type I, Protein-Glutamine-Gamma-Glutamyltransferase 2 3
  • Protein-Glutamine Gamma-Glutamyltransferase K 3 4
  • Transglutaminase K 3 4
  • Epidermal TGase 3 4
  • EC 2.3.2.13 4 50
  • TGase K 3 4
  • TGase-1 3 4
  • TGASE 2 3
  • TG(K) 3 4
  • KTG 3 4
  • LI1 2 3
  • LI 2 3
  • Transglutaminase 1 (K Polypeptide Epidermal Type I, Protein-Glutamine-Gamma-Glutamyltransferase) 2
  • Transglutaminase, Keratinocyte 3
  • Transglutaminase-1 4
  • ARCI1 3
  • ICR2 3
  • TGM1 5

External Ids for TGM1 Gene

Previous HGNC Symbols for TGM1 Gene

  • ICR2

Previous GeneCards Identifiers for TGM1 Gene

  • GC14M022090
  • GC14M018505
  • GC14M022708
  • GC14M023788
  • GC14M024718
  • GC14M004833

Summaries for TGM1 Gene

Entrez Gene Summary for TGM1 Gene

  • The protein encoded by this gene is a membrane protein that catalyzes the addition of an alkyl group from an akylamine to a glutamine residue of a protein, forming an alkylglutamine in the protein. This protein alkylation leads to crosslinking of proteins and catenation of polyamines to proteins. This gene contains either one or two copies of a 22 nt repeat unit in its 3' UTR. Mutations in this gene have been associated with autosomal recessive lamellar ichthyosis (LI) and nonbullous congenital ichthyosiform erythroderma (NCIE). [provided by RefSeq, Jul 2008]

GeneCards Summary for TGM1 Gene

TGM1 (Transglutaminase 1) is a Protein Coding gene. Diseases associated with TGM1 include Ichthyosis, Congenital, Autosomal Recessive 1 and Ichthyosis. Among its related pathways are Keratinization and Developmental Biology. Gene Ontology (GO) annotations related to this gene include protein-glutamine gamma-glutamyltransferase activity. An important paralog of this gene is F13A1.

UniProtKB/Swiss-Prot Summary for TGM1 Gene

  • 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).

Gene Wiki entry for TGM1 Gene

Additional gene information for TGM1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for TGM1 Gene

Genomics for TGM1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for TGM1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around TGM1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for TGM1

Top Transcription factor binding sites by QIAGEN in the TGM1 gene promoter:
  • CUTL1
  • IRF-2
  • ITF-2
  • NF-kappaB
  • NF-kappaB1
  • Pax-5
  • Sp1
  • STAT3

Genomic Locations for TGM1 Gene

Latest Assembly
chr14:24,249,114-24,264,432
(GRCh38/hg38)
Size:
15,319 bases
Orientation:
Minus strand

Previous Assembly
chr14:24,718,320-24,732,383
(GRCh37/hg19 by Entrez Gene)
Size:
14,064 bases
Orientation:
Minus strand

chr14:24,718,320-24,733,638
(GRCh37/hg19 by Ensembl)
Size:
15,319 bases
Orientation:
Minus strand

Alternative Locations (GRCh38/hg38)

  • chr14(PATCHES):550,092-564,155 (-)

Genomic View for TGM1 Gene

Genes around TGM1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TGM1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TGM1 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for TGM1 Gene

Proteins for TGM1 Gene

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  • Protein details for TGM1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P22735-TGM1_HUMAN
    Recommended name:
    Protein-glutamine gamma-glutamyltransferase K
    Protein Accession:
    P22735
    Secondary Accessions:
    • B4DWR7
    • Q197M4

    Protein attributes for TGM1 Gene

    Size:
    817 amino acids
    Molecular mass:
    89787 Da
    Cofactor:
    Name=Ca(2+); Xref=ChEBI:CHEBI:29108;
    Quaternary structure:
    • Interacts with PLAAT4.
    SequenceCaution:
    • Sequence=AAA61166.1; Type=Frameshift; Evidence={ECO:0000305}; Sequence=M86360; Type=Frameshift; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for TGM1 Gene

    Alternative splice isoforms for TGM1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for TGM1 Gene

Protein Expression for TGM1 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Selected DME Specific Peptides for TGM1 Gene

P22735:
  • YILFNPWC
  • YKHPEGS
  • WMKRPDLP
  • RTPDLSLTLLGAAVVGQECEVQIVF
  • WNFHVWNDCWM
  • TLTNVVFRLEGSGLQRPK
  • FIFAEVN
  • FAEVNSD
  • SAMVNSLDDNGVLIGNW
  • MPVAYKEY
  • LIVRRGQ
  • MLLNVSGHVKE
  • YGQCWVFA

Post-translational modifications for TGM1 Gene

  • Palmitoylated.
  • The membrane anchorage region possesses a cluster of five cysteines within which fatty acid(s) may become thioester-linked. It is subject to phorbol ester-stimulated phosphorylation and is hypersensitive to proteolysis, which releases the enzyme in a soluble form.
  • Tyrosine-phosphorylated.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for TGM1 Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains & Families for TGM1 Gene

Gene Families for TGM1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Plasma proteins
  • Potential drug targets
  • Predicted intracellular proteins

Protein Domains for TGM1 Gene

InterPro:
Blocks:
  • Transglutaminase-like domain

Suggested Antigen Peptide Sequences for TGM1 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ57159, highly similar to Protein-glutamine gamma-glutamyltransferase K (EC 2.3.2.13) (B4DWR7_HUMAN)
  • Transglutaminase-1 (TGM1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P22735

UniProtKB/Swiss-Prot:

TGM1_HUMAN :
  • Belongs to the transglutaminase superfamily. Transglutaminase family.
Family:
  • Belongs to the transglutaminase superfamily. Transglutaminase family.
genes like me logo Genes that share domains with TGM1: view

Function for TGM1 Gene

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  6. Cell Lines for research

Molecular function for TGM1 Gene

UniProtKB/Swiss-Prot 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).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=L-glutaminyl-[protein] + L-lysyl-[protein] = [protein]-L-lysyl-N(6)-5-L-glutamyl-[protein] + NH4(+); Xref=Rhea:RHEA:54816, Rhea:RHEA-COMP:9752, Rhea:RHEA-COMP:10207, Rhea:RHEA-COMP:14005, ChEBI:CHEBI:28938, ChEBI:CHEBI:29969, ChEBI:CHEBI:30011, ChEBI:CHEBI:138370; EC=2.3.2.13; Evidence={ECO:0000255|PROSITE-ProRule:PRU10024};.
GENATLAS Biochemistry:
keratinocyte transglutaminase,K polypeptide,epidermal,type I (92kDa),membrane associated,crosslinking the structural components SPRRs,IVL and LOR for the formation of cornified enveloppe,also binding omega-hydroxyceramides to evolucrin by ester bond formation in the terminal step of the differentiation programme of epidermal keratinocytes

Enzyme Numbers (IUBMB) for TGM1 Gene

Phenotypes From GWAS Catalog for TGM1 Gene

Gene Ontology (GO) - Molecular Function for TGM1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003810 protein-glutamine gamma-glutamyltransferase activity IEA,IDA 7961731
GO:0005515 protein binding IPI 7592852
GO:0016740 transferase activity IEA --
GO:0016746 transferase activity, transferring acyl groups IEA --
GO:0042802 identical protein binding IPI 32296183
genes like me logo Genes that share ontologies with TGM1: view
genes like me logo Genes that share phenotypes with TGM1: view

Human Phenotype Ontology for TGM1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for TGM1 Gene

MGI Knock Outs for TGM1:
  • Tgm1 Tgm1<tm1Kfyn>

Animal Models for research

miRNA for TGM1 Gene

miRTarBase miRNAs that target TGM1

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TGM1

No data available for Transcription Factor Targets and HOMER Transcription for TGM1 Gene

Localization for TGM1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TGM1 Gene

Membrane. Lipid-anchor.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for TGM1 gene
Compartment Confidence
plasma membrane 5
cytosol 5
extracellular 4
nucleus 4
cytoskeleton 2
mitochondrion 2
peroxisome 1
endoplasmic reticulum 1
endosome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Plasma membrane (2)
  • Vesicles (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for TGM1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001533 cornified envelope TAS 8824274
GO:0005829 cytosol TAS --
GO:0005886 plasma membrane TAS --
GO:0016020 membrane IEA,IDA 17762858
GO:0031224 intrinsic component of membrane IDA 8824274
genes like me logo Genes that share ontologies with TGM1: view

Pathways & Interactions for TGM1 Gene

PathCards logo

SuperPathways for TGM1 Gene

genes like me logo Genes that share pathways with TGM1: view

Pathways by source for TGM1 Gene

SIGNOR curated interactions for TGM1 Gene

Is inactivated by:

Gene Ontology (GO) - Biological Process for TGM1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006464 cellular protein modification process NAS 1979171
GO:0010838 positive regulation of keratinocyte proliferation IMP 26220141
GO:0018149 peptide cross-linking IEA,IDA 9722562
GO:0018215 protein phosphopantetheinylation IEA --
GO:0030216 keratinocyte differentiation IDA 8824274
genes like me logo Genes that share ontologies with TGM1: view

Drugs & Compounds for TGM1 Gene

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(15) Drugs for TGM1 Gene - From: DrugBank, ApexBio, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
L-Glutamine Approved, Investigational Nutra Enzyme, substrate 0
Ammonia Approved Pharma 0
Calcium Nutra 6959
Cystamine dihydrochloride Pharma 0
LDN-27219 Pharma Tgases inhibitor 0

(11) Additional Compounds for TGM1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs

(2) ApexBio Compounds for TGM1 Gene

Compound Action Cas Number
Cystamine dihydrochloride 56-17-7
LDN-27219 Tgases inhibitor 312946-37-5
genes like me logo Genes that share compounds with TGM1: view

Drug products for research

Transcripts for TGM1 Gene

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mRNA/cDNA for TGM1 Gene

1 REFSEQ mRNAs :
13 NCBI additional mRNA sequence :
9 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TGM1

Alternative Splicing Database (ASD) splice patterns (SP) for TGM1 Gene

No ASD Table

Relevant External Links for TGM1 Gene

GeneLoc Exon Structure for
TGM1

Expression for TGM1 Gene

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  1. Primer products for research
  2. Gene Expression Assays for research

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for TGM1 Gene

mRNA expression in normal human tissues for TGM1 Gene
mRNA expression by BioGPS for TGM1 GenemRNA expression by GTEx for TGM1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for TGM1 Gene

This gene is overexpressed in Esophagus - Mucosa (x29.6), Minor Salivary Gland (x5.7), and Vagina (x4.4).

Protein differential expression in normal tissues from HIPED for TGM1 Gene

This gene is overexpressed in Saliva (25.3) and Cervix (22.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for TGM1 Gene



Protein tissue co-expression partners for TGM1 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for TGM1

SOURCE GeneReport for Unigene cluster for TGM1 Gene:

Hs.508950

Evidence on tissue expression from TISSUES for TGM1 Gene

  • Skin(4.6)
  • Blood(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for TGM1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • immune
  • integumentary
  • nervous
  • reproductive
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • ear
  • eye
  • eyelid
  • face
  • forehead
  • head
  • lip
  • outer ear
Pelvis:
  • penis
  • vulva
Limb:
  • ankle
  • digit
  • elbow
  • finger
  • foot
  • hand
  • hip
  • knee
  • lower limb
  • nail
  • shoulder
  • toe
  • upper limb
  • wrist
General:
  • blood
  • blood vessel
  • hair
  • skin
  • spinal cord
  • sweat gland
  • white blood cell
genes like me logo Genes that share expression patterns with TGM1: view

No data available for mRNA Expression by UniProt/SwissProt for TGM1 Gene

Orthologs for TGM1 Gene

This gene was present in the common ancestor of animals.

Orthologs for TGM1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
 Mammalia TGM1 29 30
  • 99.55 (n)
 OneToOne
Cow
(Bos Taurus)
 Mammalia TGM1 29 30
  • 88.14 (n)
 OneToOne
Dog
(Canis familiaris)
 Mammalia TGM1 29 30
  • 87.59 (n)
 OneToOne
Mouse
(Mus musculus)
 Mammalia Tgm1 29 16 30
  • 85.64 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Tgm1 29
  • 84.54 (n)
Oppossum
(Monodelphis domestica)
 Mammalia TGM1 30
  • 82 (a)
 OneToOne
Lizard
(Anolis carolinensis)
 Reptilia TGM1 30
  • 68 (a)
 OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia tgm1 29
  • 58.42 (n)
Zebrafish
(Danio rerio)
 Actinopterygii tgm1l1 29 30
  • 58.14 (n)
 OneToMany
TGM1 (1 of 6) 30
  • 49 (a)
 OneToMany
tgm1l4 30
  • 47 (a)
 OneToMany
tgm1 30
  • 47 (a)
 OneToMany
TGM1 (6 of 6) 30
  • 40 (a)
 OneToMany
tgm1l2 30
  • 38 (a)
 OneToMany
Dr.11273 29
Rainbow Trout
(Oncorhynchus mykiss)
 Actinopterygii Omy.3007 29
Fruit Fly
(Drosophila melanogaster)
 Insecta Tg 29 30
  • 50.05 (n)
 OneToMany
CG7356 31
  • 37 (a)
African malaria mosquito
(Anopheles gambiae)
 Insecta AgaP_AGAP009100 29
  • 49.9 (n)
Sea Squirt
(Ciona savignyi)
 Ascidiacea CSA.10087 30
  • 35 (a)
 OneToMany
Species where no ortholog for TGM1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Platypus (Ornithorhynchus anatinus)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for TGM1 Gene

ENSEMBL:
Gene Tree for TGM1 (if available)
TreeFam:
Gene Tree for TGM1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for TGM1: view image
Alliance of Genome Resources:
Additional Orthologs for TGM1

Paralogs for TGM1 Gene

Paralogs for TGM1 Gene

(8) SIMAP similar genes for TGM1 Gene using alignment to 9 proteins:

  • TGM1_HUMAN
  • B4DWR7_HUMAN
  • G1APU8_HUMAN
  • H0YKI6_HUMAN
  • H0YLJ6_HUMAN
  • H0YLT9_HUMAN
  • H0YMQ8_HUMAN
  • H0YN27_HUMAN
  • H0YNM4_HUMAN
genes like me logo Genes that share paralogs with TGM1: view

Variants for TGM1 Gene

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Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for TGM1 Gene

SNP ID Clinical significance and condition Chr 14 pos Variation AA Info Type
1031534 Pathogenic: Autosomal recessive congenital ichthyosis 1 24,258,284(-) C/T
NM_000359.3(TGM1):c.1402+1G>A 		SPLICE_DONOR
838484 Pathogenic: Autosomal recessive congenital ichthyosis 1; not provided 24,258,667(-) C/G
NM_000359.3(TGM1):c.1166G>C (p.Arg389Pro) 		MISSENSE
881031 Uncertain Significance: Autosomal recessive congenital ichthyosis 1 24,249,149(-) C/T
NM_000359.3(TGM1):c.*164G>A 		THREE_PRIME_UTR
881032 Likely Benign: Autosomal recessive congenital ichthyosis 1 24,249,151(-) G/T
NM_000359.3(TGM1):c.*162C>A 		THREE_PRIME_UTR
881070 Uncertain Significance: Autosomal recessive congenital ichthyosis 1 24,259,130(-) C/T
NM_000359.3(TGM1):c.1104G>A (p.Thr368=) 		SYNONYMOUS

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for TGM1 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for TGM1 Gene

Variant ID Type Subtype PubMed ID
nsv952818 CNV deletion 24416366

Variation tolerance for TGM1 Gene

Residual Variation Intolerance Score: 88.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.57; 56.01% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for TGM1 Gene

Human Gene Mutation Database (HGMD)
TGM1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
TGM1
Leiden Open Variation Database (LOVD)
TGM1

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TGM1 Gene

Disorders for TGM1 Gene

MalaCards: The human disease database

(48) MalaCards diseases for TGM1 Gene - From: OMI, CVR, GTR, ORP, SWI, COP, and GCD

- elite association - COSMIC cancer census association via MalaCards
Search TGM1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

TGM1_HUMAN
  • Ichthyosis, congenital, autosomal recessive 1 (ARCI1) [MIM:242300]: A form of autosomal recessive congenital ichthyosis, a disorder of keratinization with abnormal differentiation and desquamation of the epidermis, resulting in abnormal skin scaling over the whole body. The main skin phenotypes are lamellar ichthyosis (LI) and non-bullous congenital ichthyosiform erythroderma (NCIE), although phenotypic overlap within the same patient or among patients from the same family can occur. Lamellar ichthyosis is a condition often associated with an embedment in a collodion-like membrane at birth; skin scales later develop, covering the entire body surface. Non-bullous congenital ichthyosiform erythroderma characterized by fine whitish scaling on an erythrodermal background; larger brownish scales are present on the buttocks, neck and legs. {ECO:0000269 PubMed:11251583, ECO:0000269 PubMed:11511296, ECO:0000269 PubMed:19890349, ECO:0000269 PubMed:26220141, ECO:0000269 PubMed:7773290, ECO:0000269 PubMed:7824952, ECO:0000269 PubMed:9326318}. Note=The disease is caused by variants affecting the gene represented in this entry.

Additional Disease Information for TGM1

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with TGM1: view

No data available for Genatlas for TGM1 Gene

Publications for TGM1 Gene

  1. Transglutaminase-1 gene mutations in autosomal recessive congenital ichthyosis: summary of mutations (including 23 novel) and modeling of TGase-1. (PMID: 19241467) Herman ML … Toro JR (Human mutation 2009) 3 4 22 40 72
  2. Genotypic and clinical spectrum of self-improving collodion ichthyosis: ALOX12B, ALOXE3, and TGM1 mutations in Scandinavian patients. (PMID: 19890349) Vahlquist A … Fischer J (The Journal of investigative dermatology 2010) 3 4 22 72
  3. Novel transglutaminase-1 mutations and genotype-phenotype investigations of 104 patients with autosomal recessive congenital ichthyosis in the USA. (PMID: 18948357) Farasat S … Toro JR (Journal of medical genetics 2009) 3 22 40 72
  4. Novel mutations of TGM1 in a child with congenital ichthyosiform erythroderma. (PMID: 11251583) Akiyama M … Shimizu H (The British journal of dermatology 2001) 3 4 22 72
  5. Novel mutations of the transglutaminase 1 gene in lamellar ichthyosis. (PMID: 11511296) Yang JM … Steinert PM (The Journal of investigative dermatology 2001) 3 4 22 72

ExternalLinks

View latest publications for TGM1 gene in Mastermind

Products for TGM1 Gene

  • Addgene plasmids for TGM1

Sources for TGM1 Gene