Mouse Anti-COG4 Recombinant Antibody (CBXC-0499) (V2LY-1206-LY570)

component of oligomeric golgi complex 4

Required for normal Golgi function (PubMed:19536132, PubMed:30290151).

Plays a role in SNARE-pin assembly and Golgi-to-ER retrograde transport via its interaction with SCFD1 (PubMed:19536132).

Endoplasmic reticulum to Golgi vesicle-mediated transport Source: Reactome
Golgi organization Source: UniProtKB
Golgi vesicle prefusion complex stabilization Source: UniProtKB
Protein transport Source: UniProtKB-KW
Retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum Source: UniProtKB

Cytosol; Golgi apparatus membrane. Mosty cytosolic, with about 5% membrane-bound.

Congenital disorder of glycosylation 2J (CDG2J):
A multisystem disorder caused by a defect in glycoprotein biosynthesis and characterized by under-glycosylated serum glycoproteins. Congenital disorders of glycosylation result in a wide variety of clinical features, such as defects in the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. The broad spectrum of features reflects the critical role of N-glycoproteins during embryonic development, differentiation, and maintenance of cell functions.
Saul-Wilson syndrome (SWILS):
A rare skeletal dysplasia with characteristic dysmorphic and radiographic findings, as well as early developmental delay, primarily involving speech, with eventual normal cognition. Clinical findings include marked short stature, prominent forehead with an enlarged anterior fontanel, prominent eyes with cataracts, narrow nasal bridge with a convex nasal ridge, micrognathia, clubfoot, brachydactyly, and short distal phalanges of fingers. Radiographic changes include platyspondyly, irregular end plates of vertebral bodies, and hypoplasia of the odontoid process with cervical instability in the spine, coxa valga, overtubulation, metaphyseal flaring and megaepiphyses in the long bones, while the hands and feet exhibit short phalanges, metacarpals and metatarsals, cone-shaped epiphyses of phalanges, and accessory ossification centers of metacarpals and metatarsals.