0 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
ⓘGeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
135PubMed Papers
21Diseases
0Drugs
28Pathogenic Variants
FUNCTIONAL ROLETransporter
CLINICALOMIM Disease Gene
DATA QUALITY✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
regulation of mitochondrial membrane potentialprotein bindinglipid bindingubiquitin protein ligase bindingTroyer syndromeNeurodevelopmental delaygenetic disordereye disease
AI summary not yet available. Showing NCBI Gene summary.
spartin
⚠Limited data available — This gene has 0 indexed publications. Summary and analysis may be incomplete.
Troyer syndromeOpen Targets
Neurodevelopmental delayOpen Targets
genetic disorderOpen Targets
Global developmental delayOpen Targets
cerebellar ataxiaOpen Targets
Failure to thriveOpen Targets
retinoschisisOpen Targets
hereditary spastic paraplegiaOpen Targets
response to antihypertensive drugOpen Targets
gastric cancerOpen Targets
Rare genetic vascular diseaseOpen Targets
familial thoracic aortic aneurysm and aortic dissectionOpen Targets
aortic aneurysm, familial thoracic 7Open Targets
Spastic paraplegia 20, autosomal recessiveUniProt
NM_015087.5(SPART):c.696dup (p.Val233fs)Pathogenic
Troyer syndrome|not provided
★★☆☆2025→ Residue 233
NM_015087.5(SPART):c.364_365del (p.Met122fs)Pathogenic
Troyer syndrome|not provided|Inborn genetic diseases|Neurodevelopmental delay
★★☆☆2024→ Residue 122
NM_015087.5(SPART):c.1474_1477del (p.Gln492fs)Pathogenic
Troyer syndrome|not provided
★★☆☆2024→ Residue 492
NM_015087.5(SPART):c.776del (p.Asp259fs)Pathogenic
not provided|SPART-related disorder
★★☆☆2024→ Residue 259
NM_015087.5(SPART):c.1369C>T (p.Arg457Ter)Pathogenic
not provided|Troyer syndrome|Neurodevelopmental delay
★★☆☆2023→ Residue 457
NM_015087.5(SPART):c.1110del (p.Lys370fs)Pathogenic
Troyer syndrome|not provided|SPART-related disorder
★★☆☆2023→ Residue 370
NM_015087.5(SPART):c.696del (p.Phe232fs)Pathogenic
not provided
★★☆☆2023→ Residue 232
NM_015087.5(SPART):c.1294del (p.Ser432fs)Pathogenic
not provided|Troyer syndrome
★★☆☆2022→ Residue 432
NM_015087.5(SPART):c.853_856del (p.Pro284_Val285insTer)Pathogenic
not provided
★☆☆☆2025→ Residue 284
NM_015087.5(SPART):c.1483+1G>ALikely pathogenic
not provided
★☆☆☆2025
NM_015087.5(SPART):c.1008+1G>CLikely pathogenic
not provided
★☆☆☆2025
NM_015087.5(SPART):c.844_847del (p.Arg282fs)Pathogenic
not provided
★☆☆☆2025→ Residue 282
NM_015087.5(SPART):c.1257G>A (p.Trp419Ter)Pathogenic
not provided
★☆☆☆2024→ Residue 419
NM_015087.5(SPART):c.253_254del (p.Leu85fs)Pathogenic
not provided
★☆☆☆2024→ Residue 85
NM_015087.5(SPART):c.1324G>C (p.Ala442Pro)Likely pathogenic
Troyer syndrome
★☆☆☆2024→ Residue 442
NM_015087.5(SPART):c.1738G>T (p.Gly580Ter)Likely pathogenic
Troyer syndrome
★☆☆☆2023→ Residue 580
NM_015087.5(SPART):c.885dup (p.Pro296fs)Likely pathogenic
not provided
★☆☆☆2022→ Residue 296
NM_015087.5(SPART):c.894_898del (p.Met299fs)Pathogenic
Troyer syndrome
★☆☆☆2022→ Residue 299
NM_015087.5(SPART):c.553_554del (p.Val185fs)Pathogenic
not provided
★☆☆☆2022→ Residue 185
NM_015087.5(SPART):c.592G>T (p.Gly198Ter)Likely pathogenic
Troyer syndrome
★☆☆☆2022→ Residue 198