SLC25A45

Chr 11

solute carrier family 25 member 45

NCBI Gene: 283130 ENSG00000162241 UniProt: Q8N413 OMIM: 610825

This mitochondrial inner membrane transporter is predicted to facilitate transmembrane transport across the mitochondrial inner membrane. Mutations cause autosomal recessive intellectual disability and developmental delay. The gene shows minimal constraint against loss-of-function variants, and affected individuals typically present in early childhood with neurodevelopmental abnormalities.

OMIM ResearchSummary from RefSeq

Enables N(6),N(6),N(6)-trimethyl-L-lysine transmembrane transporter activity and dimethylarginine transmembrane transporter activity. Involved in carnitine biosynthetic process. Is active in mitochondrial inner membrane. [provided by Alliance of Genome Resources, Jun 2026]

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

1.36

LOEUF

Multiple*

Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

1.36LOEUF

pLI 0.000

Z-score 0.60

OE 0.82 (0.52–1.36)

Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?

0.13Z-score

OE missense 0.97 (0.86–1.10)

178 obs / 183.1 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?

LoF OE?0.82 (0.52–1.36)

0≤0.351.4

Missense OE?0.97 (0.86–1.10)

0≤0.61.4

Synonymous OE?0.95

0≤1.21.6

LoF obs/exp: 11 / 13.4Missense obs/exp: 178 / 183.1Syn Z: 0.33

Background carrier burden — how many people carry a rare variant somewhere in SLC25A45?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 78

382 rare PASS variants

Rare truncating (LoF)

1 in 800

76 rare PASS variants

Rare synonymous (reference)

1 in 340

149 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for SLC25A45. A background rate for each class, not the frequency of any particular variant; thin-coverage exons undercount.

By genetic ancestry · 9 gnomAD groups · rare = under 0.1% in that group

Group	People	Missense	Truncating
European (non-Finnish)	~556k	1 in 140	1 in 1,600
South Asian	~43k	1 in 100	1 in 2,000
Remaining (unassigned)	~30k	1 in 54	1 in 490
European (Finnish)	~27k	1 in 570	1 in 2,600
Admixed American	~22k	1 in 89	1 in 1,200
African / African American	~21k	1 in 110	1 in 1,900
East Asian	~20k	1 in 190	1 in 440
Ashkenazi Jewish	~13k	1 in 1,100	≈ 1 in 6,500
Middle Eastern	~2,884	1 in 63	≈ 1 in 1,400

Each group is summed over the variants that are rare in that group. Grey ≈ figures rest on fewer than five expected carriers — too few to distinguish groups. Differences mostly reflect how many people were sampled and how much variation each ancestry carries, not disease risk.

Exome coverage (gnomAD): All 6 coding exons well covered in gnomAD exomes and genomes.? see exons ↓