DISEASES

Disease-gene associations mined from literature

Literature associating KRTCAP2 and autosomal recessive chronic granulomatous disease cytochrome b-positive type I

KRTCAP2 [ENSP00000295682]

Keratinocyte-associated protein 2; Subunit of the oligosaccharyl transferase (OST) complex that catalyzes the initial transfer of a defined glycan (Glc(3)Man(9)GlcNAc(2) in eukaryotes) from the lipid carrier dolichol- pyrophosphate to an asparagine residue within an Asn-X-Ser/Thr consensus motif in nascent polypeptide chains, the first step in protein N-glycosylation. N-glycosylation occurs cotranslationally and the complex associates with the Sec61 complex at the channel-forming translocon complex that mediates protein translocation across the endoplasmic reticulum (ER). All subunits are required for a maximal enzyme activity . May be involved in N-glycosylation of APP (amyloid-beta precursor protein). Can modulate gamma-secretase cleavage of APP by enhancing endoprotelysis of PSEN1 .

Synonyms:  KRTCAP2,  KRTCAP2p,  hKRTCAP2,  Q8N6L1,  Q8N6L1p ...

Linkouts:  STRING  Pharos  UniProt