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HLD19
Chr 1ADtransmembrane protein 63A
Also known as: HLD19, KIAA0792, hTMEM63A
HLD19 enables mechanosensitive ion channel activity and is predicted to be involved in surfactant secretion, with cellular localization to organelle membranes, centriolar satellites, and the plasma membrane. Mutations cause hypomyelinating leukodystrophy 19, which presents as a transient infantile form affecting white matter development. The condition follows autosomal dominant inheritance.
Some data sources returned errors (2)
ensembl: Error: Ensembl fetch failed: 400 for https://rest.ensembl.org/lookup/symbol/homo_sapiens/HLD19?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
HLD19 · protein map & ClinVar variants
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3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
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External Resources
Links to major genomics databases and tools