SEC23A gene

Sec23 homolog A, coat complex II component

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

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]

From UniProt:

Component of the COPII coat, that covers ER-derived vesicles involved in transport from the endoplasmic reticulum to the Golgi apparatus. COPII acts in the cytoplasm to promote the transport of secretory, plasma membrane, and vacuolar proteins from the endoplasmic reticulum to the Golgi complex.

From NCBI Gene:

  • Craniolenticulosutural dysplasia

From UniProt:

Craniolenticulosutural dysplasia (CLSD): Autosomal recessive syndrome characterized by late-closing fontanels, sutural cataracts, facial dysmorphisms and skeletal defects. [MIM:607812]

Cytogenetic Location: 14q21.1, which is the long (q) arm of chromosome 14 at position 21.1

Molecular Location: base pairs 39,031,919 to 39,103,528 on chromosome 14 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 14q21.1, which is the long (q) arm of chromosome 14 at position 21.1