Reference for NPHP3. Search for NPHP3

AI searches containing NPHP3

NPHP3

NPHP3

Protein-coding gene in the species Homo sapiens

Nephrocystin-3 is a protein that in humans is encoded by the NPHP3 gene. This gene encodes a protein containing a coiled-coil (CC) domain, a tubulin-tyrosine

NPHP3

Renal–hepatic–pancreatic dysplasia

Medical condition

pancreatic fibrosis, renal dysplasia and hepatic dysgenesis. An association with NPHP3 has been described. It was characterized in 1959. Renal–hepatic–pancreatic

Renal–hepatic–pancreatic dysplasia

Renal–hepatic–pancreatic_dysplasia

Meckel–Gruber syndrome

Medical condition

MKS3 607361 TMEM67 MKS4 611134 CEP290 MKS5 611561 RPGRIP1L MKS6 612284 CC2D2A MKS7 608002 NPHP3 MKS8 613846 TCTN2 MKS9 614144 B9D1 MKS10 611951 B9D2

Meckel–Gruber syndrome

Meckel–Gruber_syndrome

Ciliopathy

Genetic disease resulting in abnormal formation or function of cilia

CC2D2A, CEP41, CEP290, CORS2, INPP5E, JBTS1, JBTS3, JBTS4, KIF7, NPHP1, NPHP3, RPGRIP1L, TCTN1, TCTN2, TMEM67, TMEM138, TMEM216, TMEM237 Leber congenital

Ciliopathy

Conorenal syndrome

Medical condition

The exact gene loci has not been characterized. NPHP3: Olbrich, et al., found mutations in the NPHP3 gene that cause nepnroonophthisis and a version of

Conorenal syndrome

Conorenal_syndrome

Nephronophthisis

Medical condition

inversus this can be explained by its relation with inversin gene. NPHP1, NPHP3, NPHP4, NPHP5, and NPHP6 are sometimes seen with retinitis pigmentosa, this

Nephronophthisis

Tetratricopeptide repeat

Protein tandem repeat

KLC2, KLC3, KLC4, KNS2 LONRF2 NARG1, NARG1L, NASP, NCF2, NFKBIL2, NOXA1, NPHP3 OGT PEX5, PEX5L, PPID, PPP5C, PRPF6 RANBP2, RANBP2L2, RANBP2L6, RAPSN, RGPD5

Tetratricopeptide repeat

Tetratricopeptide_repeat

List of human protein-coding genes 5

Q9GZQ6 10713 NPFFR2 HGNC:4525; Q9Y5X5 10714 NPHP1 HGNC:7905; O15259 10715 NPHP3 HGNC:7907; Q7Z494 10716 NPHP4 HGNC:19104; O75161 10717 NPHS1 HGNC:7908;

List of human protein-coding genes 5

List_of_human_protein-coding_genes_5

List of OMIM disorder codes

syndrome; 236700; MKKS Meacham syndrome; 608978; WT1 Meckel syndrome 7; 267010; NPHP3 Meckel syndrome type 4; 611134; CEP290 Meckel syndrome, type 1; 249000;

List of OMIM disorder codes

List_of_OMIM_disorder_codes

NPHP1

Benzing T, Hildebrandt F, Omran H (Aug 2003). "Mutations in a novel gene, NPHP3, cause adolescent nephronophthisis, tapeto-retinal degeneration and hepatic

NPHP1