COLGALT1 gene

collagen beta(1-O)galactosyltransferase 1

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

From NCBI Gene:

The protein encoded by this gene is one of two enzymes that transfers galactose moieties to hydroxylysine residues of collagen and mannose binding lectin. This gene is constitutively expressed and encodes a soluble protein that localizes to the endoplasmic reticulum. [provided by RefSeq, Dec 2015]

From UniProt:

Beta-galactosyltransferase that transfers beta-galactose to hydroxylysine residues of type I collagen (PubMed:19075007, PubMed:22216269, PubMed:27402836). By acting on collagen glycosylation, facilitates the formation of collagen triple helix (PubMed:27402836). Also involved in the biosynthesis of collagen type IV (PubMed:30412317).

From NCBI Gene:

  • BRAIN SMALL VESSEL DISEASE 3

From UniProt:

Brain small vessel disease 3 (BSVD3): An autosomal recessive form of brain small vessel disease, a cerebrovascular disorder with variable manifestations reflecting the location and severity of the vascular defect. BSVD3 patients may have disease onset in utero or early infancy with subsequent global developmental delay, spasticity, and porencephaly on brain imaging. Other patients may have normal or mildly delayed development with sudden onset of intracranial hemorrhage causing acute neurologic deterioration. [MIM:618360]

Cytogenetic Location: 19p13.11, which is the short (p) arm of chromosome 19 at position 13.11

Molecular Location: base pairs 17,555,649 to 17,583,159 on chromosome 19 (Homo sapiens Updated Annotation Release 109.20190607, GRCh38.p13) (NCBI)

Cytogenetic Location: 19p13.11, which is the short (p) arm of chromosome 19 at position 13.11
  • BSVD3
  • ColGalT 1
  • GLT25D1