SLC35A2 gene

solute carrier family 35 member A2

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

From NCBI Gene:

This gene encodes a member of the nucleotide-sugar transporter family. The encoded protein is a multi-pass membrane protein. It transports UDP-galactose from the cytosol into Golgi vesicles, where it serves as a glycosyl donor for the generation of glycans. Mutations in this gene cause congenital disorder of glycosylation type IIm (CDG2M). Multiple alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Oct 2014]

From UniProt:

Transports nucleotide sugars from the cytosol into Golgi vesicles where glycosyltransferases function.

From NCBI Gene:

  • CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIm

From UniProt:

Congenital disorder of glycosylation 2M (CDG2M): A disorder characterized by developmental delay, hypotonia, ocular anomalies, and brain malformations. Othere more variable clinical features included seizures, hypsarrhythmia, poor feeding, microcephaly, recurrent infections, dysmorphic features, shortened limbs, and coagulation defects. Congenital disorders of glycosylation are caused by a defect in glycoprotein biosynthesis and characterized by under-glycosylated serum glycoproteins and a wide variety of clinical features. The broad spectrum of features reflects the critical role of N-glycoproteins during embryonic development, differentiation, and maintenance of cell functions. [MIM:300896]

Cytogenetic Location: Xp11.23, which is the short (p) arm of the X chromosome at position 11.23

Molecular Location: base pairs 48,903,180 to 48,911,958 on the X chromosome (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: Xp11.23, which is the short (p) arm of the X chromosome at position 11.23
  • CDG2M
  • CDGX
  • UDP-Gal-Tr
  • UGALT
  • UGAT
  • UGT
  • UGT1
  • UGT2
  • UGTL