Gene Symbol | SEMA7A |
Entrez Gene ID | 8482 |
Full Name | semaphorin 7A (John Milton Hagen blood group) |
Synonyms | CD108,CDw108,H-SEMA-K1,H-Sema-L,JMH,SEMAK1,SEMAL |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | This gene encodes a member of the semaphorin family of proteins. The encoded preproprotein is proteolytically processed to generate the mature glycosylphosphatidylinositol (GPI)-anchored membrane glycoprotein. The encoded protein is found on activated lymphocytes and erythrocytes and may be involved in immunomodulatory and neuronal processes. The encoded protein carries the John Milton Hagen (JMH) blood group antigens. Mutations in this gene may be associated with reduced bone mineral density (BMD). Alternative splicing results in multiple transcript variants, at least one of which encodes an isoform that is proteolytically processed. [provided by RefSeq, Feb 2016]. |
Disorder MIM: | |
Disorder Html: | [Blood group, John-Milton-Hagen system], 614745 (3) |