SLC25A24

Chr 1AD

solute carrier family 25 member 24

Also known as: APC1, SCAMC-1, SCAMC1

This gene encodes a carrier protein that transports ATP-Mg exchanging it for phosphate. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2012]

GeneReviewsOMIMResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Fontaine progeroid syndromeMIM #612289
AD

Clinical highlights

Gene-disease validity (ClinGen)
Fontaine progeroid syndrome · ADDefinitivesufficient evidence for diagnostic panels
0
Active trials
13
Pubs (1 yr)
P/LP submissions
P/LP missense
1.13
LOEUF
Multiple*
Mechanism· predicted
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GeneReview available — SLC25A24
Authoritative clinical overview · Recommended first read
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Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
1.13LOEUF
pLI 0.000
Z-score 1.05
OE 0.78 (0.551.13)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.82Z-score
OE missense 0.86 (0.770.96)
220 obs / 257.2 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.78 (0.551.13)
00.351.4
Missense OE?0.86 (0.770.96)
00.61.4
Synonymous OE?1.09
01.21.6
LoF obs/exp: 21 / 26.9Missense obs/exp: 220 / 257.2Syn Z: -0.66

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

SLC25A24 · 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 →