Gene mutations and affected proteins linked to nephronophthisis and other associated syndromes

Gene	Protein	Clinical features/syndrome
NPHP1	Nephrocystin-1	NPH, SLS, JBTS
NPHP2/INVS	Inversin	NPH, SLS, HF, situs inversus
NPHP3	Nephrocystin-3	NPH, SLS, HF, MKS
NPHP4	Nephrocystin-4/Nephroretinin	NPH, SLS
NPHP5/IQCB1	Nephrocystin-5/IQ motif containing B1	NPH, SLS, LCA
NPHP6/CEP290	Centrosomal protein 290	NPH, SLS, LCA, JBTS, MKS,
NPHP7/GLIS2	GLI similar 2	NPH
NPHP8/RPGRIP1L/MKS5	RPGRIP1-like	NPH, SLS, JBTS, MKS
NPHP9/NEK8	NIMA-related kinase 8	NPH, SLS
NPHP10/SDCCAG8/SLSN7	Serologically defined colon cancer antigen 8	NPH, SLS, BBS-like
NPHP11/TMEM67/MKS3	Transmembrane protein 67	NPH, JBTS, MKS, HF
NPHP12/TTC21B	Intraflagellar transport protein 139	NPH, JBTS, JATD, BBS
NPHP13/WDR19	WD repear domain 19/IFT protein 144	NPH, JATD, SBS
NPHP14/ZNF423	Zing finger protein 423	NPH, JBTS
NPHP15/CEP164	Centrosomal protein 164	NPH, SLS, JBTS, BBS
NPHPL1/XPNPEP3	X-prolyl aminopeptidase 3	NPH
TMEM216/JBTS2/MKS2	Tranbsmembrane protein 216	NPH, JBTS, MKS
AH11/JBTS3	Jouberin	NPH, JBTS
CC2D2A/MKS6	Coiled coil and C2 domain containing 2A	NPH, JBTS, MKS
ATXN10	Ataxin 10	NPH, JBTS, HF
IFT43	Intraflagellar transport protein 43	NPH, SBS
IFT122	Intraflagellar transport protein 122	NPH, SBS
IFT140	Intraflagellar transport protein 140	NPH, JATD, SMS
CEP41	Centrosomal protein 41	NPH, JBTS

NPH: nephronophthisis; SLS: Senior-Loken syndrome; JBTS: Joubert syndrome; HF: hepatic fibrosis; MKS: Meckel-Gruber syndrome; LCA: Leber's congenital amaurosis; BBS: Bardet-Biedl syndrome; JATD: Jeune syndrome; SBS: Sensenbrenner syndrome; SMS: Saldino-Mainzer syndrome.

Graphic 90846 Version 2.0

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Gene mutations and affected proteins linked to nephronophthisis and other associated syndromes