SEC14L5

Chr 16

SEC14 like lipid binding 5

Also known as: PRELID4B

NCBI Gene: 9717 ENSG00000103184 UniProt: O43304 OMIM: 619412

The SEC14L5 protein is predicted to function in the cytoplasm and localize to the mitochondrial intermembrane space, though its specific molecular function remains unclear. Mutations cause autosomal recessive spastic paraplegia with intellectual disability and seizures, typically presenting in infancy or early childhood. This gene shows minimal constraint against loss-of-function variants, consistent with its recessive inheritance pattern.

OMIM ResearchSummary from RefSeq

Predicted to be located in mitochondrial intermembrane space. Predicted to be active in cytoplasm. [provided by Alliance of Genome Resources, Jul 2025]

OMIM ResearchGenerating clinical summary…

GOFmechanismLOEUF 1.25

Clinical Summary— SEC14L5

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Population Constraint (gnomAD)

Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.

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Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

1.25LOEUF

pLI 0.000

Z-score 0.34

OE 0.94 (0.71–1.25)

Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?

-1.43Z-score

OE missense 1.20 (1.11–1.29)

507 obs / 424.2 exp

Tolerant

Tolerant to missense variation

Observed / Expected Ratios?

LoF OE?0.94 (0.71–1.25)

0≤0.351.4

Missense OE?1.20 (1.11–1.29)

0≤0.61.4

Synonymous OE?1.35

0≤1.21.6

LoF obs/exp: 34 / 36.2Missense obs/exp: 507 / 424.2Syn Z: -3.64

This gene — mechanism propensity

0.5673th %ile

GOF

0.6444th %ile

LOF

0.4430th %ile

The highest-scoring mechanism for this gene is gain-of-function.

GOFprediction above median

Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.

Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.