SEC23A SEC23 homolog A, COPII coat complex component
Gene ID: 10484, updated on 6-Oct-2024Gene type: protein coding
Also known as: CLSD; hSec23A
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- Go to complete Gene record for SEC23A
- Go to Variation Viewer for SEC23A variants
Summary
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]
Associated conditions
See all available tests in GTR for this gene
Description | Tests |
---|---|
Craniolenticulosutural dysplasia | See labs |
Genomic context
- Location:
- 14q21.1
- Sequence:
- Chromosome: 14; NC_000014.9 (39031919..39103235, complement)
- Total number of exons:
- 22
Variation
Resource | Links for this gene |
---|---|
ClinVar | Variants reported to ClinVar |
dbVar | Studies and variants |
SNP | Variation Viewer for SEC23A variants |
Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- SEC23A database
- Variation ViewerRelated Variants
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