<unk>  describes a severe autosomal recessive neurodevelopmental disorder caused by a loss of function mutation in SEC31A, a component of the coat protein complex II (COP-II). SEC31A (transcript variant 1; NM_ 001318120), also known as KIAA0905 and SEC31-related protein A (SEC31L1), encodes the transport protein SEC31A, a 1220 amino acid protein that is highly conserved through evolution. It contains multiple WD repeats near the N-terminus and conserved proline-rich region in its C-terminal. SEC31A is a component of the COPII protein complex, responsible for vesicle budding from the Endoplasmic Reticulum (ER). It has been demonstrated to be highly expressed in the notochord, optic tectum, otic vesicle, cleithrum, and fin during embryogenesis. Its importance to neuronal and craniofacial development has been demonstrated mainly through its efficient coupling with SEC13 and the SEC23-SEC31A interface. Failure to recruit SEC31A results in severe secretion defects of procollagen, and an enlarged ER, in line with aberrant protein secretion.
Halperin-Birk syndrome
Birk-Barel syndrome
Hurler syndrome
Kindler syndrome
Hecht Scott syndrome
ZTTK syndrome
GRACILE syndrome
GAPO syndrome