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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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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
PKHD1 mutations in a Chinese twin family with Caroli disease.
Report PKHD1 mutations in autosomal recessive polycystic kidney disease leading to alterations in genetic transcription.
The cytoplasmic tail of fibrocystin modulates the PI3K (show PIK3CA Antibodies)/Akt (show AKT1 Antibodies)/mTOR (show FRAP1 Antibodies) pathway and the cleaved C-tail regulates the function of the full-length protein.
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