PKHD1 Ciliary IPT Domain-Containing Fibrocystin/Polyductin

Alternative Names

  • PKHD1
  • Fibrocystin
  • FCYT
  • Polyductin
  • Polycystic Kidney and Hepatic Disease 1 Gene
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OMIM Number

606702

NCBI Gene ID

9016

Uniprot ID

P08F94

Length

472,941 bases

No. of Exons

67

No. of isoforms

2

Protein Name

PKHD1

Molecular Mass

446702 Da

Amino Acid Count

4059

Genomic Location

chr6:51,614,685-52,087,625

Gene Map Locus
6p12.3-p12.2

Description

The Fibrocystin protein s present in fetal and adult kidney cells, and is also present at low levels in the liver and pancreas. The protein may play a role in the morphogenesis and maintenance of tubular architecture in the organs and may act as a receptor, interacting with molecules outside the cell and receiving signals that help the cell respond to its environment.

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_138694.3:c.10628T>GSaudi ArabiaNC_000006.12:g.51659498A>CPathogenicPolycystic Kidney Disease 4 with or without Polycystic Liver DiseaseNG_008753.1:g.433128T>G; NM_138694.3:c.10628T>G ; NP_619639.3:p.Leu3543Trp
NM_138694.3:c.1736C>TSaudi ArabiaNC_000006.12:g.52055687G>ABenign, Likely BenignPathogenicPolycystic Kidney Disease 4 with or without Polycystic Liver DiseaseNG_008753.1:g.36939C>T; NM_138694.3:c.1736C>T; NP_619639.3:p.Thr579Met4550069296381
NM_138694.3:c.2027C>GSaudi ArabiaNC_000006.12:g.52053189G>CBenign, Likely BenignLikely BenignPolycystic Kidney Disease 4 with or without Polycystic Liver DiseaseNG_008753.1:g.39437C>G; NM_138694.3:c.2027C>G; NP_619639.3:p.Pro676Arg11504564396383
NM_138694.3:c.3539G>ASaudi ArabiaNC_000006.12:g.52028177C>TLikely PathogenicLikely PathogenicPolycystic Kidney Disease 4 with or without Polycystic Liver DiseaseNG_008753.1:g.64449G>A; NM_138694.3:c.3539G>A ; NP_619639.3:p.Gly1180Glu1581827172636692
NM_138694.3:c.4870C>TSaudi ArabiaNC_000006.12:g.52024940G>ALikely Pathogenic, Pathogenic, Uncertain SignificancePathogenicPolycystic Kidney Disease 4 with or without Polycystic Liver DiseaseNG_008753.1:g.67686C>T; NM_138694.3:c.4870C>T; NP_619639.3:p.Arg1624Trp200391019188369
NM_138694.3:c.5725C>TSaudi ArabiaNC_000006.12:g.52010335G>ABenign, Likely BenignPathogenicPolycystic Kidney Disease 4 with or without Polycystic Liver DiseaseNG_008753.1:g.82291C>T; NM_138694.3:c.5725C>T; NP_619639.3:p.Arg1909Trp11533847696411
NM_138694.4:c.4417C>TLebanonchr6:52025393PathogenicLikely PathogenicPolycystic Kidney Disease 4 with or without Polycystic Liver DiseaseNG_008753.1:g.67233C>T; NM_138694.4:c.4417C>T; NP_619639.3:p.Gln1473Ter1554198717556021
NM_138694.4:c.5086T>GLebanonNC_000006.12:g.52024724A>CUncertain SignificanceLikely PathogenicRenal Hypodysplasia/Aplasia 1NG_008753.1:g.67902T>G; NM_138694.4:c.5086T>G; NP_619639.3:p.Ser1696Ala1562160374598017
NM_138694.4:c.7912-5T>GLebanonNC_000006.12:g.51847975A>CLikely Benign, Uncertain SignificanceLikely PathogenicPolycystic Kidney Disease 4 with or without Polycystic Liver DiseaseNG_008753.1:g.244651T>G; NM_138694.4:c.7912-5T>G; NP_619639.3:p.?37151053796425
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