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Genetics Home Reference: your guide to understanding genetic conditions
http://ghr.nlm.nih.gov/     A service of the U.S. National Library of Medicine®

SLC35C1

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

What is the official name of the SLC35C1 gene?

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.

What is the normal function of the SLC35C1 gene?

From NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/55343):

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]

From UniProt (http://www.uniprot.org/uniprot/Q96A29):

Involved in GDP-fucose import from the cytoplasm into the Golgi lumen.

How are changes in the SLC35C1 gene related to health conditions?

UniProt (http://www.uniprot.org/uniprot/Q96A29) provides the following information about the SLC35C1 gene's known or predicted involvement in human disease.

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.

NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/55343) lists the following diseases or traits (phenotypes) known or believed to be associated with changes in the SLC35C1 gene.
  • Congenital disorder of glycosylation type 2C
OMIM.org (http://omim.org/), a catalog designed for genetics professionals and researchers, provides the following information about the SLC35C1 gene and its association with health conditions.
OMIM
Number
Title

Where is the SLC35C1 gene located?

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.

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.

Where can I find additional information about SLC35C1?

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.

What other names do people use for the SLC35C1 gene or gene products?

  • CDG2C
  • FUCT1

See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.

What glossary definitions help with understanding SLC35C1?

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.

 
Published: December 16, 2014