SLC25A16

Chr 10

solute carrier family 25 member 16

Also known as: D10S105E, GDA, GDC, HGT.1, ML7, hGP, hML7

This gene encodes a protein that contains three tandemly repeated mitochondrial carrier protein domains. The encoded protein is localized in the inner membrane and facilitates the rapid transport and exchange of molecules between the cytosol and the mitochondrial matrix space. This gene has a possible role in Graves' disease. [provided by RefSeq, Jul 2008]

ResearchGenerating clinical summary…
0
Active trials
7
Pubs (1 yr)
P/LP submissions
P/LP missense
1.05
LOEUF
Multiple*
Mechanism· predicted
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
1.05LOEUF
pLI 0.000
Z-score 1.41
OE 0.65 (0.411.05)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.58Z-score
OE missense 0.88 (0.771.00)
160 obs / 182.0 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.65 (0.411.05)
00.351.4
Missense OE?0.88 (0.771.00)
00.61.4
Synonymous OE?1.02
01.21.6
LoF obs/exp: 12 / 18.5Missense obs/exp: 160 / 182.0Syn Z: -0.15

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

SLC25A16 · 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

No active trials found for this gene.

Search ClinicalTrials.gov →