基因注释 - DDX23

📝 官方信息

官方名称：DEAD-box helicase 23

功能摘要：This gene encodes a member of the DEAD box protein family. DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure, such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. The protein encoded by this gene is a component of the U5 snRNP complex; it may facilitate conformational changes in the spliceosome during nuclear pre-mRNA splicing. An alternatively spliced transcript variant has been found for this gene, but its biological validity has not been determined. [provided by RefSeq, Jul 2008].

🎯 作为靶基因的剪接因子

PTBP1 综合评分: 0.486 · 证据 2 条
SRSF2 综合评分: 0.424 · 证据 1 条
FUS 综合评分: 0.398 · 证据 1 条
fus 综合评分: 0.398 · 证据 1 条
Tardbp 综合评分: 0.364 · 证据 1 条
Srsf3 综合评分: 0.362 · 证据 1 条
HNRNPA2B1 综合评分: 0.350 · 证据 2 条
HNRNPC 综合评分: 0.350 · 证据 2 条
HNRNPH1 综合评分: 0.350 · 证据 2 条
HNRNPM 综合评分: 0.350 · 证据 2 条
RBM10 综合评分: 0.312 · 证据 2 条
RBM15 综合评分: 0.312 · 证据 2 条
RBM39 综合评分: 0.312 · 证据 2 条
HNRNPK 综合评分: 0.300 · 证据 2 条
RBFOX2 综合评分: 0.300 · 证据 2 条
SRSF3 综合评分: 0.300 · 证据 1 条
SRSF9 综合评分: 0.300 · 证据 1 条
Srsf2 综合评分: 0.300 · 证据 1 条
PRPF8 综合评分: 0.298 · 证据 1 条
Rbmx 综合评分: 0.274 · 证据 1 条

🏥 关联疾病

global developmental delay with speech and behavioral abnormalities

低关联 (0.370)

dengue disease

低关联 (0.370)

Neurodevelopmental disorder

低关联 (0.343)

Motor delay

低关联 (0.266)

bilateral perisylvian polymicrogyria

低关联 (0.266)

IMAGe syndrome

低关联 (0.266)

Abnormal facial shape

低关联 (0.266)

Failure to thrive

低关联 (0.266)

fetal growth restriction

低关联 (0.266)

genetic disorder

低关联 (0.192)

🔍 查看该基因的所有关联疾病

🔗 外部数据库链接

NCBI Gene GenBank Ensembl GeneCards UniProt

🧬 基因注释：DDX23