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HLD19

Chr 1

transmembrane protein 63A

Also known as: HLD19, KIAA0792, hTMEM63A

Enables mechanosensitive monoatomic ion channel activity. Predicted to be involved in surfactant secretion. Located in bounding membrane of organelle; centriolar satellite; and plasma membrane. Implicated in hypomyelinating leukodystrophy 19. [provided by Alliance of Genome Resources, Apr 2025]

ResearchGenerating clinical summary…
Some data sources returned errors (3)

ensembl: Error: Ensembl fetch failed: 400 for /lookup/symbol/homo_sapiens/HLD19?content-type=application/json&expand=1

gnomad: Error: Gene not found

omim: Error: OMIM fetch failed: 429

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

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

Clinical Trials

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