DDX39

Protein-coding gene in the species Homo sapiens From Wikipedia, the free encyclopedia

ATP-dependent RNA helicase DDX39 is an enzyme that in humans is encoded by the DDX39 gene.[5][6]


AliasesDDX39A, BAT1, BAT1L, DDX39, DDXL, URH49, DEAD-box helicase 39A, DExD-box helicase 39A
End14,419,383 bp[1]
Quick facts DDX39A, Identifiers ...
DDX39A
Identifiers
AliasesDDX39A, BAT1, BAT1L, DDX39, DDXL, URH49, DEAD-box helicase 39A, DExD-box helicase 39A
External IDsMGI: 1915528; HomoloGene: 68487; GeneCards: DDX39A; OMA:DDX39A - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_001204057
NM_005804
NM_138998

NM_197982
NM_001363116
NM_001363117

RefSeq (protein)

NP_005795

NP_932099
NP_001350045
NP_001350046

Location (UCSC)Chr 19: 14.41 – 14.42 MbChr 8: 84.44 – 84.45 Mb
PubMed search[3][4]
Wikidata
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This gene encodes a member of the DEAD box protein family. These proteins are characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD) and 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 the DEAD box protein family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division.[6]

Clinical Significance

Disorders of this enzyme are caused by a missense of the gene and can result in developmental delay, hypotonia, short stature, and variable neurological presentation[7]

References

Further reading

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