PKHD1 ciliary IPT domain containing fibrocystin/polyductin

Gene information

• Identity
  HGNC:9016
• Gene
  PKHD1
• Long gene name
  PKHD1 ciliary IPT domain containing fibrocystin/polyductin
• Synonyms gene
  • TIGM1
• Synonyms gene name
  • TIG multiple domains 1
  • polycystic kidney and hepatic disease 1 (autosomal recessive)
  • PKHD1, fibrocystin/polyductin
• Synonyms
  • ARPKD
  • FCYT
  • FPC
• Synonyms name
  • tigmin
  • polyductin
  • fibrocystin
  • fibrocystin/polyductin complex
• GenBank acession
  • AF480064
• Locus
  6p12.3-p12.2
• Discovery year
  1994-12-15
• Entrez gene record
  5314
• Pubmed identfication
  • 9503014
  • 18782757
  • 20554582
• RefSeq identity
  • NM_138694
• Classification
  • IPT domain containing
• VEGA ID
  OTTHUMG00000014841
• Locus Specific Databases
  • Autosomal Recessive Polycystic Kidney Disease

Products linked with gene