TMEM144
Chr 4transmembrane protein 144
Also known as: SLC35G7
The TMEM144 protein is predicted to function as a carbohydrate transmembrane transporter, facilitating the transport of carbohydrates across cellular membranes. Mutations in TMEM144 cause autosomal recessive developmental and epileptic encephalopathy-106, typically presenting in infancy with seizures and developmental delays. This gene shows very low constraint against loss-of-function variants (pLI near zero), which is consistent with a recessive inheritance pattern where heterozygous carriers are typically unaffected.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Tolerant to missense variation
ClinVar Variant Classifications
106 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | 0 | 0 | 30 | 0 | 30 |
Likely Pathogenic | 0 | 0 | 3 | 0 | 3 |
VUS | 0 | 51 | 7 | 0 | 58 |
Likely Benign | 0 | 0 | 1 | 0 | 1 |
Benign | 0 | 0 | 0 | 0 | 0 |
| Total | 0 | 51 | 41 | 0 | 92 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
TMEM144 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →No open access results found
External Resources
Links to major genomics databases and tools