DISEASES

Disease-gene associations mined from literature

Literature associating FHDC1 and ITM2B-related cerebral amyloid angiopathy 2

FHDC1 [ENSP00000427567]

FH2 domain-containing protein 1; Microtubule-associated formin which regulates both actin and microtubule dynamics. Induces microtubule acetylation and stabilization and actin stress fiber formation . Regulates Golgi ribbon formation . Required for normal cilia assembly. Early in cilia assembly, may assist in the maturation and positioning of the centrosome/basal body, and once cilia assembly has initiated, may also promote cilia elongation by inhibiting disassembly .

Synonyms:  FHDC1,  FHDC1p,  hFHDC1,  Q9C0D6,  Q9C0D6p ...

Linkouts:  STRING  Pharos  UniProt