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HLD2
Chr 1ARgap junction protein gamma 2
Also known as: CX46.6, Cx47, GJA12, HLD2, LMPH1C, LMPHM3, PMLDAR, SPG44
This gene encodes a gap junction protein that plays a key role in central myelination and is involved in peripheral myelination. Mutations cause autosomal recessive hypomyelinating leukodystrophy type 2 (Pelizaeus-Merzbacher-like disease), a white matter disorder affecting the central nervous system. The condition follows autosomal recessive inheritance.
Some data sources returned errors (2)
ensembl: Error: Ensembl fetch failed: 400 for https://rest.ensembl.org/lookup/symbol/homo_sapiens/HLD2?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
HLD2 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →No open access results found
External Resources
Links to major genomics databases and tools