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TZMP1

Chr 9

transition zone microprotein 1

Also known as: C9orf133, SMIM27, TOPORS-AS1

TZMP1 encodes a protein predicted to be located in cellular membranes. Mutations in this gene have been associated with neurodevelopmental disorders, though the specific clinical phenotype and inheritance pattern require further characterization. Additional clinical and molecular studies are needed to fully define the disease spectrum associated with TZMP1 variants.

ResearchSummary from RefSeq
Some data sources returned errors (2)

ensembl: Error: Ensembl fetch failed: 400 for https://rest.ensembl.org/lookup/symbol/homo_sapiens/TZMP1?content-type=application/json&expand=1

gnomad: Error: Gene not found

Population Genetics & Constraint

Constraint data not available from gnomAD.

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

TZMP1 · protein map & ClinVar variants

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

3D Protein StructureAlphaFold

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

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Clinical Literature
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Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
PubTator3
Top 1 full-text resultsSearch PubTator3 ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC

No open access results found