Gene: SLC19A1

Alternate names for this Gene: CHMD|FOLT|IFC-1|IFC1|REFC|RFC|RFC1|RFT-1|hRFC|hSLC19A1

Gene Summary: The membrane protein encoded by this gene is a transporter of folate and is involved in the regulation of intracellular concentrations of folate. Three transcript variants encoding different isoforms have been found for this gene.

Gene is located in Chromosome: 21

Location in Chromosome : 21q22.3

Description of this Gene: solute carrier family 19 member 1

Type of Gene: protein-coding

Gene: COL18A1

Alternate names for this Gene: GLCC|KNO|KNO1|KS

Gene Summary: This gene encodes the alpha chain of type XVIII collagen. This collagen is one of the multiplexins, extracellular matrix proteins that contain multiple triple-helix domains (collagenous domains) interrupted by non-collagenous domains. A long isoform of the protein has an N-terminal domain that is homologous to the extracellular part of frizzled receptors. Proteolytic processing at several endogenous cleavage sites in the C-terminal domain results in production of endostatin, a potent antiangiogenic protein that is able to inhibit angiogenesis and tumor growth. Mutations in this gene are associated with Knobloch syndrome. The main features of this syndrome involve retinal abnormalities, so type XVIII collagen may play an important role in retinal structure and in neural tube closure. Alternative splicing results in multiple transcript variants.

Gene is located in Chromosome: 21

Location in Chromosome : 21q22.3

Description of this Gene: collagen type XVIII alpha 1 chain

Type of Gene: protein-coding