TGM6 Gene Summary [Human]

The protein encoded by this gene belongs to the transglutaminase superfamily. It catalyzes the cross-linking of proteins and the conjugation of polyamines to proteins. Mutations in this gene are associated with spinocerebellar ataxia type 35 (SCA35). Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]

Details

Type
Protein Coding
Official Symbol
TGM6
Official Name
transglutaminase 6 [Source:HGNC Symbol;Acc:HGNC:16255]
Ensembl ID
ENSG00000166948
Bio databases IDs NCBI: 343641 Ensembl: ENSG00000166948
Aliases transglutaminase 6, spinocerebellar ataxia 35, protein-glutamine gamma-glutamyltransferase 6
Synonyms dJ734P14.3, RGD1565348, SCA35, TG6, TGM3L, TGY, transglutaminase 6
Species
Human, Homo sapiens
OrthologiesMouseRat

Protein Domains

A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human TGM6 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
  • Transglutaminase-like superfamily
  • Transglutaminase/protease-like homologues
  • protein-glutamine gamma-glutamyltransferase
  • enzyme
  • Transglutaminase family, C-terminal ig like domain
  • Transglutaminase family

Pathways

Biological processes and signaling networks where the TGM6 gene in human plays a role, providing insight into its function and relevance in health or disease.

Top Findings

The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
  • atopic dermatitis
  • Alzheimer disease
  • spinocerebellar ataxia type 35
  • acute myeloid leukemia
  • tuberculosis
regulated by
  • Ca2+
  • guanosine nucleotides
regulates

Subcellular Expression

Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
  • Cytoplasm

Gene Ontology Annotations

Describes the biological processes, cellular components, and molecular functions associated with the human TGM6 gene, providing context for its role in the cell.

Biological Process

Functions and activities the gene product is involved in
  • peptide cross-linking

Cellular Component

Where in the cell the gene product is active
  • cytoplasm

Molecular Function

What the gene product does at the molecular level
  • protein-glutamine gamma-glutamyltransferase activity
  • metal ion binding

Gene-Specific Assays for Results You Can Trust

Streamline your workflow with assays designed for this gene. Our targeted dPCR and qPCR assays help you generate meaningful data – efficiently and accurately.