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The official name of this gene is “solute carrier family 35 (GDP-fucose transporter), member C1.”
SLC35C1 is the gene's official symbol. The SLC35C1 gene is also known by other names, listed below.
This gene encodes a GDP-fucose transporter that is found in the Golgi apparatus. Mutations in this gene result in congenital disorder of glycosylation type IIc. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2009]
Involved in GDP-fucose import from the cytoplasm into the Golgi lumen.
Congenital disorder of glycosylation 2C (CDG2C): 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. The clinical features of CDG2C include mental retardation, short stature, facial stigmata, and recurrent bacterial peripheral infections with persistently elevated peripheral leukocytes. Biochemically, CDG2C is characterized by a lack of fucosylated glycoconjugates, including selectin ligands. The disease is caused by mutations affecting the gene represented in this entry.
|266265 (http://omim.org/entry/266265)||CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIc|
|605881 (http://omim.org/entry/605881)||SOLUTE CARRIER FAMILY 35, MEMBER C1|
Cytogenetic Location: 11p11.2
Molecular Location on chromosome 11: base pairs 45,804,071 to 45,813,015
The SLC35C1 gene is located on the short (p) arm of chromosome 11 at position 11.2.
More precisely, the SLC35C1 gene is located from base pair 45,804,071 to base pair 45,813,015 on chromosome 11.
See How do geneticists indicate the location of a gene? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) in the Handbook.
You and your healthcare professional may find the following resources about SLC35C1 helpful.
You may also be interested in these resources, which are designed for genetics professionals and researchers.
See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.
cell ; coagulation ; congenital ; cytoplasm ; differentiation ; embryonic ; fucose ; gene ; glycoproteins ; glycosylation ; Golgi apparatus ; hypotonia ; immunodeficiency ; isoforms ; mental retardation ; mutation ; nervous system ; peripheral ; psychomotor ; short stature ; spectrum ; stature ; transcript
You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://ghr.nlm.nih.gov/glossary).
The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.