SLC35A1 gene

solute carrier family 35 member A1

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

From NCBI Gene:

The protein encoded by this gene is found in the membrane of the Golgi apparatus, where it transports nucleotide sugars into the Golgi. One such nucleotide sugar is CMP-sialic acid, which is imported into the Golgi by the encoded protein and subsequently glycosylated. Defects in this gene are a cause of congenital disorder of glycosylation type 2F (CDG2F). Two transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Dec 2009]

From UniProt:

Transports CMP-sialic acid from the cytosol into Golgi vesicles where glycosyltransferases function.

From NCBI Gene:

  • Congenital disorder of glycosylation type 2F

From UniProt:

Congenital disorder of glycosylation 2F (CDG2F): CDGs are a family of severe inherited diseases caused by a defect in protein N-glycosylation. They are characterized by under-glycosylated serum proteins. These multisystem disorders present with a wide variety of clinical features, such as disorders of 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:603585]

Cytogenetic Location: 6q15, which is the long (q) arm of chromosome 6 at position 15

Molecular Location: base pairs 87,472,925 to 87,512,339 on chromosome 6 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 6q15, which is the long (q) arm of chromosome 6 at position 15
  • CDG2F
  • CMPST
  • CST
  • hCST