SLC48A1

Chr 12

solute carrier family 48 member 1

Also known as: HRG-1, HRG1, hHRG-1

NCBI Gene: 55652ENSG00000211584UniProt: Q6P1K1

Enables heme binding activity and heme transmembrane transporter activity. Involved in heme transport. Located in endosome membrane; lysosomal membrane; and plasma membrane. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant
This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.
0
Active trials
3
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.68
LOEUF
GOF
Mechanism· predicted
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Moderate LoF intolerance
LoF Constraint?
0.68LOEUF
pLI 0.734
Z-score 1.94
OE 0.00 (0.00–0.68)
Moderately constrained

Typical tolerance to LoF variation

Missense Constraint?
0.77Z-score
OE missense 0.74 (0.59–0.93)
51 obs / 69.0 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.00 (0.00–0.68)
0≤0.351.4
Missense OE?0.74 (0.59–0.93)
0≤0.61.4
Synonymous OE?1.07
0≤1.21.6
LoF obs/exp: 0 / 4.4Missense obs/exp: 51 / 69.0Syn Z: -0.31

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

SLC48A1 · protein map & ClinVar variants

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

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients