HS6ST2 gene

heparan sulfate 6-O-sulfotransferase 2

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

From NCBI Gene:

Heparan sulfate proteoglycans are ubiquitous components of the cell surface, extracellular matrix, and basement membranes, and interact with various ligands to influence cell growth, differentiation, adhesion, and migration. This gene encodes a member of the heparan sulfate (HS) sulfotransferase gene family, which catalyze the transfer of sulfate to HS. Different family members and isoforms are thought to synthesize heparan sulfates with tissue-specific structures and functions. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

From UniProt:

6-O-sulfation enzyme which catalyzes the transfer of sulfate from 3'-phosphoadenosine 5'-phosphosulfate (PAPS) to position 6 of the N-sulfoglucosamine residue (GlcNS) of heparan sulfate.

From NCBI Gene:

  • PAGANINI-MIOZZO SYNDROME

From UniProt:

Paganini-Miozzo syndrome (MRXSPM): A X-linked, syndromic, neurodevelopmental disorder characterized by intellectual disability, global developmental delay, severe myopia, and mild facial dysmorphism. [MIM:301025]

Cytogenetic Location: Xq26.2, which is the long (q) arm of the X chromosome at position 26.2

Molecular Location: base pairs 132,626,012 to 132,961,370 on the X chromosome (Homo sapiens Updated Annotation Release 109.20200228, GRCh38.p13) (NCBI)

Cytogenetic Location: Xq26.2, which is the long (q) arm of the X chromosome at position 26.2
  • MRXSPM