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FLASH GENE

Symbol

TGM6

contributors: mct - updated : 27-08-2014

HGNC name	transglutaminase 6
HGNC id	16255

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_198994 13 splicing 2292 NP_945345 79.3 706 - Thomas (unpublished) NM_001254734 12 splicing 2158 NP_001241663 70.5 625 - Thomas (unpublished) lacking sequence from exon 12 encoding for the second beta-barrel domain

EXPRESSION

Type

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Nervous brain forebrain     predominantly Mus musculus

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Nervous central     highly Mus musculus

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

secondary structure

at least two beta-barrel domain

HOMOLOGY

interspecies

ortholog to murine Tgm6

Homologene

FAMILY

transglutaminase family

CATEGORY

enzyme

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm

basic FUNCTION	catalyzing R-glutaminyl-peptide, amine-gamma-glutamyl transferase reaction
	critical role for TGM6 in cortical and cerebellar neurons

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule	metal binding, cofactor,
	one Ca2+ per subunit

protein

interacts with polyQ proteins and promotes the formation of polyQ aggregates

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

SCA35

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional     --over   promotes the formation of polyQ aggregates and the conversion of soluble polyQ into insoluble polyQ aggregates

Susceptibility

to acute myeloid leukaemia (AML)

Variant & Polymorphism other	missense mutation in TGM6 c.1550T>G, p.(L517W) increasing the risk of AML

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS