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The protein encoded by PKHD1 is predicted to have a single transmembrane (TM)-spanning domain and multiple copies of an immunoglobulin-like plexin-transcription-factor domain. Additionally we are shipping and many more products for this protein.
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This report expands the spectrum of PKHD1 mutations in probands with autosomal recessive polycystic kidney disease and confirms the allelic heterogeneity of this disorder.
In this study, the entire PKHD1 coding region was amplified by 29 reactions to avoid the specific PCR amplification of individual exons, which generated the size of 1 to 7 kb products by LR PCR. This method was compared to the screening method with standard direct sequencing of each individual exon of the gene by a reference laboratory in 15 patients with ARPKD
Data show that the compound heterozygous mutations of c.11314C>T from mother and a missense c.889T>A from father of the polycystic kidney and hepatic disease 1 protein (PKHD1) gene were identified in the fetus.
Compound heterozygous PKHD1 variants cause a wide spectrum of ductal plate malformations.
Results identified six novel mutations (PKHD1: p.Thr777Met, p.Tyr2260Cys; ABCB11 (show ABCB11 Antibodies): p.Val1112Phe, c.611+1G > A, p.Gly628Trpfs*3 and NPC1 (show NPC1 Antibodies): p.Glu391Lys) for the diagnostic of inherited infantile cholestatic disorders.
Data indicate that seventeen different polycystic kidney and hepatic disease 1 (autosomal recessive) protein (PKHD1) mutations (5 novel) were detected, including deletion of one exon.
Our data provide strong evidence that the p.M627K substitution at the PKHD1 locus is a founder mutation for Autosomal recessive polycystic kidney disease in the Afrikaner population
A novel c.9059T>C mutation in PKHD1 gene expands mutation spectrum for autosomal recessive polycystic kidney disease.
Both polycystins were detected on the spindle and mid-body of mitotic cells, while fibrocystin was on centrosome throughout cell cycle.
Intragenic motifs regulate the transcriptional complexity of Pkhd1/PKHD1
The protein encoded by this gene is predicted to have a single transmembrane (TM)-spanning domain and multiple copies of an immunoglobulin-like plexin-transcription-factor domain. Alternative splicing results in two transcript variants encoding different isoforms. Other alternatively spliced transcripts have been described, but the full length sequences have not been determined. Several of these transcripts are predicted to encode truncated products which lack the TM and may be secreted. Mutations in this gene cause autosomal recessive polycystic kidney disease, also known as polycystic kidney and hepatic disease-1.
TIG multiple domains 1
, polycystic kidney and hepatic disease 1 protein