SEMA5A Chromosome 5
Semaphorin 5A
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What This Gene Does
This gene belongs to the semaphorin gene family that encodes membrane proteins containing a semaphorin domain and several thrombospondin type-1 repeats. Members of this family are involved in axonal guidance during neural development. This gene has been implicated as an autism susceptibility gene.[provided by RefSeq, Jan 2010]
Gene Info
Gene Group
"Semaphorins|MicroRNA protein coding host genes"
Locus Type
gene with protein product
Location
5p15.31
Ensembl
ENSG00000112902
Associated Conditions (1)
SEMA5A-related disorder
Key Variants
All Variants (3)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS139668453 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS146447120 | Health Risk | Conflicting classifications of pathogenicity | SEMA5A-related disorder, SEMA5A-related disorder |
| RS148774882 | Health Risk | Conflicting classifications of pathogenicity | — |