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DDX3Y

Function

Probable ATP-dependent RNA helicase. During immune response, may enhance IFNB1 expression via IRF3/IRF7 pathway (By similarity).

Involvement in disease

Located in the 'azoospermia factor a' (AZFa) region on chromosome Y which is deleted in Sertoli cell-only syndrome. This is an infertility disorder in which no germ cells are visible in seminiferous tubules leading to azoospermia.

Sequence Similarities

Belongs to the DEAD box helicase family. DDX3/DED1 subfamily.

Tissue Specificity

Widely expressed at the mRNA level, with highest levels in testis (PubMed:9381176). Testis-specific (at protein level). Expressed predominantly in spermatogonia, but occasionally detected in some pre-leptotene/leptotene spermatocytes (PubMed:15294876).

Cellular localization

Alternative names

DBY, DDX3Y, ATP-dependent RNA helicase DDX3Y

swissprot:O15523 entrezGene:8653 omim:400010