Disease-gene associations mined from literature

Literature associating TXNDC2 and chromosome 18p deletion syndrome

TXNDC2 [ENSP00000304908]

Thioredoxin domain containing 2 (spermatozoa); Probably plays a regulatory role in sperm development. May participate in regulation of fibrous sheath (FS) assembly by supporting the formation of disulfide bonds during sperm tail morphogenesis. May also be required to rectify incorrect disulfide pairing and generate suitable pairs between the FS constituents. Can reduce disulfide bonds in vitro in the presence of NADP and thioredoxin reductase.

Synonyms:  TXNDC2,  TXNDC2p,  hTXNDC2,  F5H6S7,  J3QSG5 ...

Linkouts:  STRING  Pharos  UniProt