DISEASES

Disease-gene associations mined from literature

Literature associating IQCG and Diamond-Blackfan anemia

IQCG [ENSP00000265239]

Dynein regulatory complex protein 9; Component of the nexin-dynein regulatory complex (N-DRC), a key regulator of ciliary/flagellar motility which maintains the alignment and integrity of the distal axoneme and regulates microtubule sliding in motile axonemes. Binds calmodulin when cellular Ca(2+) levels are low and thereby contributes to the regulation of calcium and calmodulin-dependent protein kinase IV (CAMK4) activity; contributes to the regulation of CAMK4 signaling cascades. Required for normal axoneme assembly in sperm flagella, normal sperm tail formation and for male fertility.

Synonyms:  IQCG,  C9J6M9,  C9JKX8,  C9JUC1,  Q9H095 ...

Linkouts:  STRING  Pharos  UniProt  OMIM