| Class |
Known_Gene |
| TCAG Gene ID |
GA3451 |
| Gene Symbol |
SBDS [HUGO ID: None] |
| Gene Name |
Shwachman-Bodian-Diamond syndrome |
| Synonyms |
CGI-97, FLJ10917, SDS |
| Summary |
Summary: This gene encodes a member of a highly conserved protein family that exists from archaea to vertebrates and plants. The encoded protein may function in RNA metabolism. Mutations within this gene are associated with Shwachman-Bodian-Diamond syndrome. An alternative transcript has been described, but its biological nature has not been determined. This gene has a closely linked pseudogene that is distally located. |
| Omim |
SBDS gene | 607444 |
| Phenotype |
Shwachman-Diamond syndrome [260400] |
| Gene Ontology |
●Molecular function
Molecular_function unknown [GO:0005554] |
| Transcript |
SBDS | T01681 | AK001779
|
Note: Some data originated from NCBI's LocusLink.
