CCDC115 gene

coiled-coil domain containing 115

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

From NCBI Gene:

The protein encoded by this gene has been observed to localize to the endoplasmic reticulum (ER)-Golgi intermediate compartment (ERGIC) and coat protein complex I (COPI) vesicles in some human cells. The encoded protein shares some homology with the yeast V-ATPase assembly factor Vma22p, and the orthologous protein in mouse promotes cell proliferation and suppresses cell death. Defects in this gene are a cause of congenital disorder of glycosylation, type IIo in humans. [provided by RefSeq, Mar 2016]

From UniProt:

May be involved in Golgi homeostasis.

From NCBI Gene:

  • CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIo

From UniProt:

Congenital disorder of glycosylation 2O (CDG2O): A form of congenital disorder of glycosylation, a genetically heterogeneous group of autosomal recessive, multisystem disorders 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. CDG2O is characterized by hepatosplenomegaly, liver failure, hypotonia, and psychomotor disability. [MIM:616828]

Cytogenetic Location: 2q21.1, which is the long (q) arm of chromosome 2 at position 21.1

Molecular Location: base pairs 130,337,933 to 130,342,681 on chromosome 2 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 2q21.1, which is the long (q) arm of chromosome 2 at position 21.1
  • ccp1
  • CDG2O