TRAPPC10 Chromosome 21
Trafficking protein particle complex subunit 10
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What This Gene Does
The protein encoded by this gene is a transmembrane protein found in the cis-Golgi complex. The encoded protein is part of the multisubunit transport protein particle (TRAPP) complex and may be involved in vesicular transport from the endoplasmic reticulum to the Golgi. Mutations in this gene could be responsible for the Unverricht-Lundborg type of progressive myoclonus epilepsy, or for autoimmune polyglandular disease type 1. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
Trafficking protein particle complex subunits
Locus Type
gene with protein product
Location
21q22.3
Ensembl
ENSG00000160218
Associated Conditions (9)
TRAPPopathy microcephalic
Neurodevelopmental disorder with microcephaly
short stature
and speech delay
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY
SHORT STATURE
SPEECH DELAY
AND BEHAVIORAL ABNORMALITIES
Intellectual disability
Key Variants
RS1179604644
Likely pathogenic
TRAPPopathy microcephalic, TRAPPopathy microcephalic
Health Risk
RS2517484633
Likely pathogenic
Neurodevelopmental disorder with microcephaly, short stature, and speech delay
Health Risk
RS2517609684
Likely pathogenic
Neurodevelopmental disorder with microcephaly, short stature, and speech delay
Health Risk
RS2517767380
Pathogenic
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SHORT STATURE, SPEECH DELAY
Health Risk
RS2038452898
Pathogenic/Likely pathogenic
Intellectual disability, Neurodevelopmental disorder with microcephaly, short stature
Health Risk
All Variants (5)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1179604644 | Health Risk | Likely pathogenic | TRAPPopathy microcephalic, TRAPPopathy microcephalic |
| RS2517484633 | Health Risk | Likely pathogenic | Neurodevelopmental disorder with microcephaly, short stature, and speech delay |
| RS2517609684 | Health Risk | Likely pathogenic | Neurodevelopmental disorder with microcephaly, short stature, and speech delay |
| RS2517767380 | Health Risk | Pathogenic | NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SHORT STATURE, SPEECH DELAY |
| RS2038452898 | Health Risk | Pathogenic/Likely pathogenic | Intellectual disability, Neurodevelopmental disorder with microcephaly, short stature |