SLC35A3 gene

solute carrier family 35 member A3

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

From NCBI Gene:

This gene encodes a UDP-N-acetylglucosamine transporter found in the golgi apparatus membrane. In cattle, a missense mutation in this gene causes complex vertebral malformation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2012]

From UniProt:

Uridine diphosphate-N-acetylglucosamine (UDP-GlcNAc) transporter in the Golgi apparatus. May supply UDP-GlcNAc as substrate for Golgi-resident glycosyltransferases that generate branching of diantennary oligosaccharides.

From NCBI Gene:

  • Arthrogryposis, mental retardation, and seizures

From UniProt:

Arthrogryposis, mental retardation, and seizures (AMRS): A disease characterized by arthrogryposis, mental retardation, autism spectrum disorder, and epilepsy. Additional features include limb malformations, distal joint involvement, microcephaly, retromicrognathia, and general muscle hypotonia. [MIM:615553]

Cytogenetic Location: 1p21, which is the short (p) arm of chromosome 1 at position 21

Molecular Location: base pairs 99,969,367 to 100,026,979 on chromosome 1 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 1p21, which is the short (p) arm of chromosome 1 at position 21