Reference for NPHP1. Search for NPHP1

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NPHP1

NPHP1

Nephrocystin-1 is a protein that in humans is encoded by the NPHP1 gene. This gene encodes a protein with src homology domain 3 (SH3) patterns. Mutations

NPHP1

Joubert syndrome

Autosomal recessive genetic disorder

syndrome 2 (CORS2) JBTS3 608629 AHI1 6q23.3 Autosomal recessive JBTS4 609583 NPHP1 2q13 JBTS5 610188 CEP290 NPHP6 12q21.32 Autosomal recessive JBTS6 610688

Joubert syndrome

Joubert_syndrome

List of genetic disorders

Jacobsen syndrome 11 1:100,000 Joubert syndrome INPP5E, TMEM216, AHI1, NPHP1, CEP290, TMEM67, RPGRIP1L, ARL13B, CC2D2A, OFD1, TMEM138, TCTN3, ZNF423

List of genetic disorders

List_of_genetic_disorders

Senior–Løken syndrome

Congenital eye disorder

of Senior–Løken syndrome type 5 has been identified to mutation in the NPHP1 gene which adversely affects the protein formation mechanism of the cilia

Senior–Løken syndrome

Senior–Løken_syndrome

Ciliopathy

Genetic disease resulting in abnormal formation or function of cilia

C5ORF42, CC2D2A, CEP41, CEP290, CORS2, INPP5E, JBTS1, JBTS3, JBTS4, KIF7, NPHP1, NPHP3, RPGRIP1L, TCTN1, TCTN2, TMEM67, TMEM138, TMEM216, TMEM237 Leber

Ciliopathy

INVS

Protein-coding gene in the species Homo sapiens

have been identified for this gene. INVS has been shown to interact with NPHP1. GRCh38: Ensembl release 89: ENSG00000119509 – Ensembl, May 2017 GRCm38:

INVS

Nephronophthisis

Medical condition

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

Nephronophthisis

Conorenal syndrome

Medical condition

research leads them to conclude "Our findings suggest that the NPHP genes (NPHP1, NPHP3, NPHP4) involved in the pathogenesis of recessive cystic kidney disease

Conorenal syndrome

Conorenal_syndrome

CEP290

Protein-coding gene in the species Homo sapiens

Burglen L, Morinière V, Boddaert N, Macher MA, et al. (May 2007). "High NPHP1 and NPHP6 mutation rate in patients with Joubert syndrome and nephronophthisis:

CEP290

List of human protein-coding genes 5

O15130 10712 NPFFR1 HGNC:17425; Q9GZQ6 10713 NPFFR2 HGNC:4525; Q9Y5X5 10714 NPHP1 HGNC:7905; O15259 10715 NPHP3 HGNC:7907; Q7Z494 10716 NPHP4 HGNC:19104;

List of human protein-coding genes 5

List_of_human_protein-coding_genes_5

FLNA

Protein-coding gene in humans

has been shown to interact with: BRCA2, CD29 CASR, FBLIM1, FILIP1, FLNB, NPHP1, RALA, SH2B3, TRIO, and VHL. GRCh38: Ensembl release 89: ENSG00000196924

FLNA

List of OMIM disorder codes

300804; OFD1 Joubert syndrome 2; 608091; TMEM216 Joubert syndrome 4; 609583; NPHP1 Joubert syndrome 5; 610188; CEP290 Joubert syndrome 6; 610688; TMEM67 Joubert

List of OMIM disorder codes

List_of_OMIM_disorder_codes

Renal–hepatic–pancreatic dysplasia

Medical condition

develop as renal cysts. 10 genes were found to be responsible for NPHP: NPHP1-6, Glis2/NPHP7, RPGRIPL1/NPHP8, NEK8/NPHP9, and MKS3/NPHP11. Mutations in

Renal–hepatic–pancreatic dysplasia