SBDS (SBDS ribosome maturation factor)
- symbol:
- SBDS
- locus group:
- protein-coding gene
- location:
- 7q11.21
- gene_family:
- alias symbol:
- CGI-97|FLJ10917|SDS|SWDS|SDO1
- alias name:
- None
- entrez id:
- 51119
- ensembl gene id:
- ENSG00000126524
- ucsc gene id:
- uc003tvm.2
- refseq accession:
- NM_016038
- hgnc_id:
- HGNC:19440
- approved reserved:
- 2003-07-02
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. [provided by RefSeq, Jul 2008]
这个基因编码高度保守的蛋白家族，从古脊椎动物和植物中存在的成员。所编码的蛋白质可在RNA的代谢作用。这种基因突变在与Shwachman - 迪恩 - 钻石综合征。一种替代转录进行了说明，但其生物性质尚未确定。该基因有密切的联系假即位于远端。 [由RefSeq的，2008年7月提供]
基因本体信息
SBDS基因（以及对应的蛋白质）的细胞分布位置：
- 质膜
- 细胞质
- 细胞外
- 高尔基体
- 囊泡
- 细胞骨架
- 内质网
- 细胞核
- 内体
- 溶酶体
- 线粒体
SBDS基因的本体（GO）信息：
| 疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
| Shwachman syndrome | 0.492757768 | 47 | 11 | BeFree_CLINVAR_CTD_human_ORPHANET_UNIPROT |
| Aplastic anemia, idiopathic | 0.12 | 0 | 0 | ORPHANET |
| APLASTIC ANEMIA, SUSCEPTIBILITY TO (finding) | 0.12 | 0 | 1 | CLINVAR |
| Dwarfism | 0.00434307 | 16 | 0 | BeFree |
| Anemia, Diamond-Blackfan | 0.002995792 | 2 | 0 | BeFree_LHGDN |
| Aplastic Anemia | 0.00272435 | 1 | 0 | LHGDN |
| Dyskeratosis Congenita | 0.00272435 | 1 | 0 | LHGDN |
| Obesity | 0.002442977 | 9 | 0 | BeFree |
| Hereditary spherocytosis | 0.001357209 | 5 | 0 | BeFree |
| Overweight | 0.001357209 | 5 | 0 | BeFree |
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