SLC25A32

Chr 8

solute carrier family 25 member 32

Also known as: GLYB, MFT, MFTC, RREI

This gene encodes a member of the P(I/L)W subfamily of mitochondrial carrier family transport proteins. The encoded protein transports folate across the inner mitochondrial membrane. Alternatively spliced transcript variants have been described. [provided by RefSeq, Mar 2013]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtExercise intolerance, riboflavin-responsive
UniProtNeural tube defects
0
Active trials
7
Pubs (1 yr)
P/LP submissions
P/LP missense
1.32
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?
1.32LOEUF
pLI 0.000
Z-score 0.59
OE 0.84 (0.561.32)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.37Z-score
OE missense 0.92 (0.811.05)
165 obs / 178.9 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.84 (0.561.32)
00.351.4
Missense OE?0.92 (0.811.05)
00.61.4
Synonymous OE?1.20
01.21.6
LoF obs/exp: 14 / 16.6Missense obs/exp: 165 / 178.9Syn Z: -1.31

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

SLC25A32 · 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 →