RFT1 gene

RFT1 homolog

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

From NCBI Gene:

This gene encodes an enzyme which catalyzes the translocation of the Man(5)GlcNAc (2)-PP-Dol intermediate from the cytoplasmic to the luminal side of the endoplasmic reticulum membrane in the pathway for the N-glycosylation of proteins. Mutations in this gene are associated with congenital disorder of glycosylation type In.[provided by RefSeq, Dec 2008]

From UniProt:

May be involved in N-linked oligosaccharide assembly. May participate in the translocation of oligosaccharide from the cytoplasmic side to the lumenal side of the endoplasmic reticulum membrane.

From NCBI Gene:

  • Congenital disorder of glycosylation type 1N

From UniProt:

Congenital disorder of glycosylation 1N (CDG1N): A multisystem disorder 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. [MIM:612015]

Cytogenetic Location: 3p21.1, which is the short (p) arm of chromosome 3 at position 21.1

Molecular Location: base pairs 53,071,151 to 53,130,469 on chromosome 3 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 3p21.1, which is the short (p) arm of chromosome 3 at position 21.1