SLC30A9

Chr 4AR

solute carrier family 30 member 9

Also known as: BILAPES, C4orf1, GAC63, HUEL, ZNT9

NCBI Gene: 10463ENSG00000014824UniProt: Q6PML9OMIM: 604604

Enables zinc ion transmembrane transporter activity. Involved in intracellular zinc ion homeostasis; regulation of mitochondrion organization; and zinc ion transport. Located in several cellular components, including cytoplasmic vesicle; endoplasmic reticulum; and mitochondrial membrane. [provided by Alliance of Genome Resources, Jul 2025]

OMIMResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Birk-Landau-Perez syndromeMIM #617595
AR

Clinical highlights

Gene-disease validity (ClinGen)
psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome · ARDefinitivesufficient evidence for diagnostic panels
1
Active trials
10
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.68
LOEUF
DN
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
0.68LOEUF
pLI 0.000
Z-score 3.11
OE 0.45 (0.31–0.68)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
1.85Z-score
OE missense 0.70 (0.63–0.79)
210 obs / 299.9 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.45 (0.31–0.68)
0≤0.351.4
Missense OE?0.70 (0.63–0.79)
0≤0.61.4
Synonymous OE?0.95
0≤1.21.6
LoF obs/exp: 17 / 37.5Missense obs/exp: 210 / 299.9Syn Z: 0.41

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

SLC30A9 · protein map & ClinVar variants

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

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