TYSND1

Chr 10

trypsin like peroxisomal matrix peptidase 1

Also known as: NET41

This gene encodes a protease that removes the N-terminal peroxisomal targeting signal (PTS2) from proteins produced in the cytosol, thereby facilitating their import into the peroxisome. The encoded protein is also capable of removing the C-terminal peroxisomal targeting signal (PTS1) from proteins in the peroxisomal matrix. The full-length protein undergoes self-cleavage to produce shorter, potentially inactive, peptides. Alternative splicing results in multiple transcript variants for this gene. [provided by RefSeq, Jan 2013]

ResearchGenerating clinical summary…
0
Active trials
1
Pubs (1 yr)
P/LP submissions
P/LP missense
1.00
LOEUF
Mechanism
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
1.00LOEUF
pLI 0.001
Z-score 1.57
OE 0.53 (0.301.00)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.98Z-score
OE missense 0.84 (0.750.93)
238 obs / 284.3 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.53 (0.301.00)
00.351.4
Missense OE?0.84 (0.750.93)
00.61.4
Synonymous OE?0.69
01.21.6
LoF obs/exp: 7 / 13.1Missense obs/exp: 238 / 284.3Syn Z: 2.75

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

TYSND1 · 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.

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