TGM6

Chr 20AD

transglutaminase 6

Also known as: SCA35, TG6, TGM3L, TGY, dJ734P14.3

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]

OMIMResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Spinocerebellar ataxia 35MIM #613908
AD
0
Active trials
8
Pubs (1 yr)
P/LP submissions
P/LP missense
1.37
LOEUF
Mechanism

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
1.37LOEUF
pLI 0.000
Z-score -0.19
OE 1.03 (0.791.37)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
-0.82Z-score
OE missense 1.11 (1.031.20)
470 obs / 422.6 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?1.03 (0.791.37)
00.351.4
Missense OE?1.11 (1.031.20)
00.61.4
Synonymous OE?1.03
01.21.6
LoF obs/exp: 36 / 34.8Missense obs/exp: 470 / 422.6Syn Z: -0.32

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

TGM6 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →