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PNDM3

Chr 11ADAR

ATP binding cassette subfamily C member 8

Also known as: ABC36, HHF1, HI, HRINS, MODY12, MRP8, PHHI, PNDM3

The encoded protein is an ATP-binding cassette transporter that functions as a modulator of ATP-sensitive potassium channels and insulin release. Mutations cause permanent neonatal diabetes mellitus, with onset in the neonatal period as indicated by the phenotype name. The condition shows both autosomal dominant and autosomal recessive inheritance patterns.

OMIMResearchSummary from RefSeq, OMIM
AD/AR1 OMIM phenotype
Some data sources returned errors (2)

ensembl: Error: Ensembl fetch failed: 400 for https://rest.ensembl.org/lookup/symbol/homo_sapiens/PNDM3?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

PNDM3 · 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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No publications found for PNDM3