Gene: PKHD1

Alternate names for this Gene: ARPKD|FCYT|FPC|PKD4|TIGM1

Gene Summary: 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.

Gene is located in Chromosome: 6

Location in Chromosome : 6p12.3-p12.2

Description of this Gene: PKHD1 ciliary IPT domain containing fibrocystin/polyductin

Type of Gene: protein-coding

Gene: LOC105375087

Alternate names for this Gene:

Gene Summary:

Gene is located in Chromosome:

Location in Chromosome :

Description of this Gene:

Type of Gene:

rs1057516345 in PKHD1;LOC105375087 gene and Autosomal Recessive Polycystic Kidney Disease PMID 25525159 2015 RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.

PMID 15698423 2005 Clinical consequences of PKHD1 mutations in 164 patients with autosomal-recessive polycystic kidney disease (ARPKD).

PMID 15108281 2004 PKHD1 mutations in families requesting prenatal diagnosis for autosomal recessive polycystic kidney disease (ARPKD).

PMID 12846734 2003 A complete mutation screen of PKHD1 in autosomal-recessive polycystic kidney disease (ARPKD) pedigrees.

PMID 12874454 2003 Milder presentation of recessive polycystic kidney disease requires presence of amino acid substitution mutations.

PMID 11898128 2002 PKHD1, the polycystic kidney and hepatic disease 1 gene, encodes a novel large protein containing multiple immunoglobulin-like plexin-transcription-factor domains and parallel beta-helix 1 repeats.

PMID 12506140 2003 Spectrum of mutations in the gene for autosomal recessive polycystic kidney disease (ARPKD/PKHD1).

PMID 25701400 2015 A labor and cost effective next generation sequencing of PKHD1 in autosomal recessive polycystic kidney disease patients.

PMID 19914852 2010 PKHD1 sequence variations in 78 children and adults with autosomal recessive polycystic kidney disease and congenital hepatic fibrosis.

PMID 11919560 2002 The gene mutated in autosomal recessive polycystic kidney disease encodes a large, receptor-like protein.

PMID 16677362 2006 Successful transplantation in a child with rapid progression of autosomal recessive polycystic kidney disease associated with a novel mutation.

PMID 25015577 2014 Consensus expert recommendations for the diagnosis and management of autosomal recessive polycystic kidney disease: report of an international conference.

PMID 27752906 2016 Genetic analysis of the PKHD1 gene with long-rang PCR sequencing.

PMID 19940839 2010 Genotype-phenotype correlations in fetuses and neonates with autosomal recessive polycystic kidney disease.

PMID 15108277 2004 PKHD1 mutations in autosomal recessive polycystic kidney disease (ARPKD).

rs1396046 in PKHD1;LOC105375087 gene and Tonometry PMID 29235454 2017 A large multi-ethnic genome-wide association study identifies novel genetic loci for intraocular pressure.