SEC23A Chromosome 14
SEC23 homolog A, COPII component
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What This Gene Does
The protein encoded by this gene is a member of the SEC23 subfamily of the SEC23/SEC24 family. It is part of a protein complex and found in the ribosome-free transitional face of the endoplasmic reticulum (ER) and associated vesicles. This protein has similarity to yeast Sec23p component of COPII. COPII is the coat protein complex responsible for vesicle budding from the ER. The encoded protein is suggested to play a role in the ER-Golgi protein trafficking. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
Coat protein complex II
Locus Type
gene with protein product
Location
14q21.1
Ensembl
ENSG00000100934
Associated Conditions (1)
Craniolenticulosutural dysplasia
Key Variants
RS144656181
Conflicting classifications of pathogenicity
Craniolenticulosutural dysplasia, Craniolenticulosutural dysplasia
Health Risk
RS144765020
Conflicting classifications of pathogenicity
Craniolenticulosutural dysplasia, Craniolenticulosutural dysplasia
Health Risk
RS2139193533
Likely pathogenic
Craniolenticulosutural dysplasia, Craniolenticulosutural dysplasia
Health Risk
RS755443033
Likely pathogenic
Craniolenticulosutural dysplasia, Craniolenticulosutural dysplasia
Health Risk
RS118204000
Pathogenic
Craniolenticulosutural dysplasia, Craniolenticulosutural dysplasia
Health Risk
All Variants (5)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS144656181 | Health Risk | Conflicting classifications of pathogenicity | Craniolenticulosutural dysplasia, Craniolenticulosutural dysplasia |
| RS144765020 | Health Risk | Conflicting classifications of pathogenicity | Craniolenticulosutural dysplasia, Craniolenticulosutural dysplasia |
| RS2139193533 | Health Risk | Likely pathogenic | Craniolenticulosutural dysplasia, Craniolenticulosutural dysplasia |
| RS755443033 | Health Risk | Likely pathogenic | Craniolenticulosutural dysplasia, Craniolenticulosutural dysplasia |
| RS118204000 | Health Risk | Pathogenic | Craniolenticulosutural dysplasia, Craniolenticulosutural dysplasia |