CCDC115

This gene encodes a component of the complement cascade. The encoded protein is part of the membrane attack complex that can be incorporated into the cell membrane and cause cell lysis. Mutations in this gene are associated with complement component-6 deficiency. Transcript variants encoding the same protein have been described.

coiled-coil domain containing 115

Accessory component of the proton-transporting vacuolar (V)-ATPase protein pump involved in intracellular iron homeostasis. In aerobic conditions, required for intracellular iron homeostasis, thus triggering the activity of Fe2+ prolyl hydroxylase (PHD) enzymes, and leading to HIF1A hydroxylation and subsequent proteasomal degradation. Necessary for endolysosomal acidification and lysosomal degradation (PubMed:28296633).
May be involved in Golgi homeostasis (PubMed:26833332).

Cellular iron ion homeostasis Source: UniProtKB
Cellular response to increased oxygen levels Source: UniProtKB
Lysosomal lumen acidification Source: UniProtKB
Lysosomal protein catabolic process Source: UniProtKB
Vacuolar proton-transporting V-type ATPase complex assembly Source: InterPro

Endosome; Lysosome; Endoplasmic reticulum; Endoplasmic reticulum-Golgi intermediate compartment; COPI-coated vesicle

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.