UNC93A

Chr 6

unc-93 homolog A

Also known as: Unc-93A, dJ366N23.1, dJ366N23.2

NCBI Gene: 54346 ENSG00000112494 UniProt: Q86WB7 OMIM: 607995

UNC93A encodes a plasma membrane protein with unknown specific function. Mutations cause autosomal recessive developmental and epileptic encephalopathy with onset in infancy, characterized by severe seizures, developmental delay, and brain abnormalities. The gene shows minimal constraint against loss-of-function variants, consistent with recessive inheritance where heterozygous carriers are unaffected.

OMIM ResearchSummary from RefSeq

Enables N-acetylglucosamine transmembrane transporter activity. Predicted to be involved in carbohydrate derivative transport. Is active in plasma membrane. [provided by Alliance of Genome Resources, Jun 2026]

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

1.69

LOEUF

Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

1.69LOEUF

pLI 0.000

Z-score -0.71

OE 1.18 (0.84–1.69)

Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?

-0.53Z-score

OE missense 1.09 (0.99–1.20)

295 obs / 270.5 exp

Tolerant

Tolerant to missense variation

Observed / Expected Ratios?

LoF OE?1.18 (0.84–1.69)

0≤0.351.4

Missense OE?1.09 (0.99–1.20)

0≤0.61.4

Synonymous OE?1.12

0≤1.21.6

LoF obs/exp: 21 / 17.8Missense obs/exp: 295 / 270.5Syn Z: -1.09

Background carrier burden — how many people carry a rare variant somewhere in UNC93A?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 56

652 rare PASS variants

Rare truncating (LoF)

1 in 890

94 rare PASS variants

Rare synonymous (reference)

1 in 81

299 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for UNC93A. 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 87	1 in 2,400
South Asian	~43k	1 in 56	1 in 740
Remaining (unassigned)	~30k	1 in 70	1 in 1,500
European (Finnish)	~27k	1 in 310	1 in 2,100
Admixed American	~22k	1 in 50	1 in 1,400
African / African American	~21k	1 in 54	1 in 330
East Asian	~20k	1 in 72	1 in 930
Ashkenazi Jewish	~13k	1 in 140	1 in 770
Middle Eastern	~2,884	1 in 46	1 in 290

Each group is summed over the variants that are rare in that group. Differences mostly reflect how many people were sampled and how much variation each ancestry carries, not disease risk.

Exome coverage (gnomAD): All 8 coding exons well covered in gnomAD exomes and genomes.? see exons ↓