10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
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47PubMed Papers
21Diseases
0Drugs
6Pathogenic Variants
FUNCTIONAL ROLEHighly ConstrainedTransporter
CLINICALOMIM Disease Gene
DATA QUALITYβ Experimental GO Evidenceβ Swiss-Prot Reviewed
intra-Golgi vesicle-mediated transportTRAPP complexprotein bindingTRAPPII protein complexneurodevelopmental disorder with microcephaly, short stature, and speech delayneurodegenerative diseaseautosomal recessive primary microcephalyIntellectual disability
TRAPPC10 is a specific subunit of the TRAPP (transport protein particle) II complex that functions in intracellular vesicle trafficking and membrane tethering 1. The protein contains a Longin domain that may contribute to the Rab11-GEF activity ascribed to TRAPP-II 2. TRAPPC10 interacts with TRAPPC9, another key TRAPP II component, and this interaction is essential for complex stability - studies show that TRAPPC10 deficiency leads to concomitant reduction of TRAPPC9 levels 1. Loss of TRAPPC10 function causes membrane trafficking defects that can be rescued by wild-type but not mutant constructs 1. Biallelic loss-of-function variants in TRAPPC10 cause a severe microcephalic neurodevelopmental disorder characterized by developmental delay, intellectual disability, microcephaly, and behavioral abnormalities including autistic traits 31. The mechanism involves premature protein termination leading to nonsense-mediated decay and loss of functional TRAPPC10 protein 3. Knockout mouse models recapitulate the human phenotype, showing neuroanatomical brain defects and microcephaly similar to findings in TRAPPC9 knockout mice 1. These findings establish TRAPPC10 as critical for normal brain development and highlight the importance of TRAPP II complex function in neurodevelopmental processes.
1
Novel TRAPPC10 variant causes severe developmental delay, microcephaly, and behavioral abnormalities through premature protein termination
PMID: 395607972
TRAPPC10 is a TRAPP II complex component that interacts with TRAPPC9; biallelic variants cause microcephalic neurodevelopmental disorder
PMID: 352984613
TRAPPC10 contains a Longin domain that may contribute to Rab11-GEF activity of TRAPP-II complex
PMID: 235118504
TRAPPC10 identified as candidate gene for autosomal recessive intellectual disability in consanguineous families
PMID: 30167849β Limited data available β This gene has 4 indexed publications. Summary and analysis may be incomplete.
neurodevelopmental disorder with microcephaly, short stature, and speech delayOpen Targets
neurodegenerative diseaseOpen Targets
autosomal recessive primary microcephalyOpen Targets
Intellectual disabilityOpen Targets
ocular hypotensionOpen Targets
Crohn's diseaseOpen Targets
generalised epilepsyOpen Targets
inherited retinal dystrophyOpen Targets
atrioventricular septal defect 5Open Targets
isolated Pierre-Robin syndromeOpen Targets
ventricular septal defect 1Open Targets
dysraphism-cleft lip/palate-limb reduction defects syndromeOpen Targets
Medeira-Dennis-Donnai syndromeOpen Targets
MMEP syndromeOpen Targets
congenital heart defects, multiple types, 4Open Targets
congenital heart diseaseOpen Targets
microphthalmia, syndromic 12Open Targets
hemoglobin D diseaseOpen Targets
Meckel syndrome, type 4Open Targets
Neurodevelopmental disorder with microcephaly, short stature, and speech delayUniProt
NM_003274.5(TRAPPC10):c.1300+1G>ALikely pathogenic
Neurodevelopmental disorder with microcephaly, short stature, and speech delay
β
βββ2024
NM_003274.5(TRAPPC10):c.1512_1513insAA (p.Ala505fs)Likely pathogenic
Neurodevelopmental disorder with microcephaly, short stature, and speech delay
β
βββ2023β Residue 505
NM_003274.5(TRAPPC10):c.940C>T (p.Gln314Ter)Likely pathogenic
Neurodevelopmental disorder with microcephaly, short stature, and speech delay
β
βββ2023β Residue 314
NM_003274.5(TRAPPC10):c.2786C>T (p.Pro929Leu)Pathogenic
Intellectual disability|Neurodevelopmental disorder with microcephaly, short stature, and speech delay
ββββ2022β Residue 929
NM_003274.5(TRAPPC10):c.3392del (p.Gly1131fs)Pathogenic
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SHORT STATURE, SPEECH DELAY, AND BEHAVIORAL ABNORMALITIES
ββββ2022β Residue 1131
NM_003274.5(TRAPPC10):c.3222C>A (p.Cys1074Ter)Likely pathogenic
TRAPPopathy microcephalic
ββββ2021β Residue 1074