Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Genomic variants reveal differential evolutionary constraints on human transglutaminases and point towards unrecognized significance of transglutaminase 2.

PloS one - 1 Jan 2017

Thangaraju Kiruphagaran, Király Róbert, Demény Máté A, András Mótyán János, Fuxreiter Mónika, Fésüs László

Abstract excerpt

Transglutaminases (TGMs) catalyze Ca2+-dependent transamidation of proteins with specified roles in blood clotting (F13a) and in cornification (TGM1, TGM3). The ubiquitous TGM2 has well described enzymatic and non-enzymatic functions but in-spite of numerous studies its physiological function in humans has not been defined. We compared data on non-synonymous single nucleotide variations (nsSNVs) and...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Amino Acid Substitution
Share to Calcium

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Databases, Protein

Share to Enzyme Stability

Share to GTP-Binding Proteins

Share to Mutation, Missense

Share to Protein Glutamine gamma Glutamyltransferase 2

Share to Transglutaminases

Source

Open in PubMed Open full text

Identifiers

PMID: 28248968
DOI: 10.1371/journal.pone.0172189
PMCID: PMC5332030

Genes

TGM2
TGM1
TGM3
TGM7

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Genomic variants reveal differential evolutionary constraints on human transglutaminases and point towards unrecognized significance of transglutaminase 2.PMID 28248968Read ↗

Polymorphism of transglutaminase 2: unusually low frequency of genomic variants with deficient functions.Semantic proximity Read ↗

Mutations in Glycosyltransferases and Glycosidases: Implications for Associated Diseases.Semantic proximity Read ↗

Calcium Dependent Conformational Changes in Human Transglutaminase 2 and its Implications in Celiac DiseaseSemantic proximity Read ↗

αIIbβ3 variants defined by next-generation sequencing: predicting variants likely to cause Glanzmann thrombasthenia.Semantic proximity Read ↗

TGM2 and implications for human disease: role of alternative splicingSemantic proximity Read ↗

A glycogene mutation map for discovery of diseases of glycosylation.Semantic proximity Read ↗

Transglutaminases and their substrates in biology and human diseases: 50 years of growingSemantic proximity Read ↗

Apparent underdiagnosis of Cerebrotendinous Xanthomatosis revealed by analysis of ~60,000 human exomes.Semantic proximity Read ↗

Characterizing glucokinase variant mechanisms using a multiplexed abundance assaySemantic proximity Read ↗

Transglutaminase-1 gene mutations in autosomal recessive congenital ichthyosis: summary of mutations (including 23 novel) and modeling of TGase-1.Semantic proximity Read ↗

Clinically significant missense variants in human GALNT3, GALNT8, GALNT12, and GALNT13 genes: intriguing in silico findings.Semantic proximity Read ↗

Hypoglycosylation is a common finding in antithrombin deficiency in the absence of a SERPINC1 gene defect.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.