SEC31A Chromosome 4

SEC31 homolog A, COPII component
1 variant 1 Health Risk

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What This Gene Does
The protein encoded by this gene shares similarity with the yeast Sec31 protein, and is a component of the outer layer of the coat protein complex II (COPII). The encoded protein is involved in vesicle budding from the endoplasmic reticulum (ER) and contains multiple WD repeats near the N-terminus and a proline-rich region in the C-terminal half. It associates with the protein encoded by the SEC13 homolog, nuclear pore and COPII coat complex component (SEC13), and is required for ER-Golgi transport. Monoubiquitylation of this protein by CUL3-KLHL12 was found to regulate the size of COPII coats to accommodate unusually shaped cargo. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2015]
Gene Info
Gene Group
"WD repeat domain containing|Coat protein complex II"
Locus Type
gene with protein product
Location
4q21.22
Ensembl
ENSG00000138674
Associated Conditions (4)
Neurodevelopmental disorder with spastic quadriplegia
optic atrophy
seizures
and structural brain anomalies
Key Variants
All Variants (1)
RSID Category Clinical Significance Conditions
RS1578188501 Health Risk Pathogenic Neurodevelopmental disorder with spastic quadriplegia, optic atrophy, seizures
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