Gene: FUT1
Alternate names for this Gene: H|HH|HSC
Gene Summary: This gene encodes a Golgi stack membrane protein that is involved in the creation of a precursor of the H antigen, which is required for the final step in the synthesis of soluble A and B antigens. This is one of two genes encoding the galactoside 2-L-fucosyltransferase enzyme. Mutations in this gene are a cause of the H-Bombay blood group.
Gene is located in Chromosome: 19
Location in Chromosome : 19q13.33
Description of this Gene: fucosyltransferase 1 (H blood group)
Type of Gene: protein-coding
Gene: IZUMO1
Alternate names for this Gene: IZUMO|OBF
Gene Summary: The sperm-specific protein Izumo, named for a Japanese shrine dedicated to marriage, is essential for sperm-egg plasma membrane binding and fusion (Inoue et al., 2005 [PubMed 15759005]).[supplied by OMIM, Mar 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AY552610.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1966682, SAMEA1968189 [ECO:0000350] ##Evidence-Data-END##
Gene is located in Chromosome: 19
Location in Chromosome : 19q13.33
Description of this Gene: izumo sperm-egg fusion 1
Type of Gene: protein-coding