HEPHL1 Chromosome 11
Hephaestin like 1
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What This Gene Does
Enables ferroxidase activity. Involved in intracellular iron ion homeostasis. Predicted to be located in membrane. Predicted to be active in plasma membrane. [provided by Alliance of Genome Resources, Jul 2025]
Gene Info
Gene Group
Multicopper ferroxidase family
Locus Type
gene with protein product
Location
11q21
Ensembl
ENSG00000181333
Associated Conditions (1)
Pili torti-developmental delay-neurological abnormalities syndrome
Key Variants
All Variants (3)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS200703100 | Health Risk | Likely pathogenic | — |
| RS2496211929 | Health Risk | Likely pathogenic | Pili torti-developmental delay-neurological abnormalities syndrome, Pili torti-developmental delay-neurological abnormalities syndrome |
| RS542337286 | Health Risk | Likely pathogenic | — |