What is the official name of the NPHP4 gene?
The official name of this gene is “nephronophthisis 4.”
NPHP4 is the gene's official symbol. The NPHP4 gene is also known by other names, listed below.
Read more about gene names and symbols on the About page.
What is the normal function of the NPHP4 gene?
- From NCBI Gene:
This gene encodes a protein involved in renal tubular development and function. This protein interacts with nephrocystin, and belongs to a multifunctional complex that is localized to actin- and microtubule-based structures. Mutations in this gene are associated with nephronophthisis type 4, a renal disease, and with Senior-Loken syndrome type 4, a combination of nephronophthisis and retinitis pigmentosa. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2014]
- From UniProt:
Involved in the organization of apical junctions in kidney cells together with NPHP1 and RPGRIP1L/NPHP8. Does not seem to be strictly required for ciliogenesis.
How are changes in the NPHP4 gene related to health conditions?
- Genetics Home Reference provides information about these conditions associated with changes in the NPHP4 gene:
- UniProt provides the following information about the NPHP4 gene's known or predicted involvement in human disease.
Nephronophthisis 4 (NPHP4): An autosomal recessive inherited disease resulting in end-stage renal disease at age ranging between 6 and 35 years. It is a progressive tubulo-interstitial kidney disorder characterized by polydipsia, polyuria, anemia and growth retardation. The most prominent histological features are modifications of the tubules with thickening of the basement membrane, interstitial fibrosis and, in the advanced stages, medullary cysts. The disease is caused by mutations affecting the gene represented in this entry.
Ciliary dysfunction leads to a broad spectrum of disorders, collectively termed ciliopathies. Overlapping clinical features include retinal degeneration, renal cystic disease, skeletal abnormalities, fibrosis of various organ, and a complex range of anatomical and functional defects of the central and peripheral nervous system. The ciliopathy range of diseases includes Meckel-Gruber syndrome, Bardet-Biedl syndrome, Joubert syndrome, nephronophtisis, Senior-Loken syndrome, and Jeune asphyxiating thoracic dystrophy among others. Single-locus allelism is insufficient to explain the variable penetrance and expressivity of such disorders, leading to the suggestion that variations across multiple sites of the ciliary proteome, including NPHP4, influence the clinical outcome.
Senior-Loken syndrome 4 (SLSN4): A renal-retinal disorder characterized by progressive wasting of the filtering unit of the kidney (nephronophthisis), with or without medullary cystic renal disease, and progressive eye disease. Typically this disorder becomes apparent during the first year of life. The disease is caused by mutations affecting the gene represented in this entry.
- NCBI Gene lists the following diseases or traits (phenotypes) known or believed to be associated with changes in the NPHP4 gene.
- Nephronophthisis 4
- Senior-Loken syndrome 4
- OMIM.org, a catalog designed for genetics professionals and researchers, provides the following information about the NPHP4 gene and its association with health conditions.
Where is the NPHP4 gene located?
Cytogenetic Location: 1p36
Molecular Location on chromosome 1: base pairs 5,862,809 to 5,992,557
The NPHP4 gene is located on the short (p) arm of chromosome 1 at position 36.
More precisely, the NPHP4 gene is located from base pair 5,862,809 to base pair 5,992,557 on chromosome 1.
See How do geneticists indicate the location of a gene? in the Handbook.
Where can I find additional information about NPHP4?
You and your healthcare professional may find the following resources about NPHP4 helpful.
- Genetic Testing Registry - Repository of genetic test information
You may also be interested in these resources, which are designed for genetics professionals and researchers.
- OMIM - Genetic disorder catalog
- Research Resources - Tools for researchers
What other names do people use for the NPHP4 gene or gene products?
Where can I find general information about genes?
The Handbook provides basic information about genetics in clear language.
These links provide additional genetics resources that may be useful.
What glossary definitions help with understanding NPHP4?
The resources on this site should not be used as a substitute for
professional medical care or advice. Users seeking information about
a personal genetic disease, syndrome, or condition should consult with a qualified
See How can I find a genetics professional in my area? in the Handbook.