ERGIC1 gene

endoplasmic reticulum-golgi intermediate compartment 1

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

From NCBI Gene:

This gene encodes a cycling membrane protein which is an endoplasmic reticulum-golgi intermediate compartment (ERGIC) protein which interacts with other members of this protein family to increase their turnover. [provided by RefSeq, Jul 2008]

From UniProt:

Possible role in transport between endoplasmic reticulum and Golgi.

From NCBI Gene:

  • Arthrogryposis multiplex congenita neurogenic type

From UniProt:

Arthrogryposis multiplex congenita, neurogenic type (AMCN): A form of arthrogryposis multiplex congenita, a heterogeneous group of disorders characterized by multiple joint contractures resulting, in some cases, from reduced or absent fetal movements. AMCN is due to a neurogenic defect and is characterized by congenital immobility of the limbs with fixation of multiple joints, and muscle wasting. AMCN transmission pattern is consistent with autosomal recessive inheritance in several families. Penetrance may be incomplete in females. [MIM:208100]

Cytogenetic Location: 5q35.1, which is the long (q) arm of chromosome 5 at position 35.1

Molecular Location: base pairs 172,834,220 to 172,952,685 on chromosome 5 (Homo sapiens Annotation Release 109, GRCh38.p12) (NCBI)

Cytogenetic Location: 5q35.1, which is the long (q) arm of chromosome 5 at position 35.1
  • AMCN
  • ERGIC-32
  • ERGIC32
  • NET24