PKHD1 Ciliary IPT Domain-Containing Fibrocystin/Polyductin

Alternative Names

PKHD1
Fibrocystin
FCYT
Polyductin
Polycystic Kidney and Hepatic Disease 1 Gene

Length

472,941 bases

No. of Exons

No. of isoforms

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 Name	Country	Genomic Location	Clinvar Clinical Significance	CTGA Clinical Significance	Condition(s)	HGVS Expressions	dbSNP	Clinvar
NM_138694.3:c.10628T>G	Saudi Arabia	NC_000006.12:g.51659498A>C		Pathogenic	Polycystic Kidney Disease 4 with or without Polycystic Liver Disease	NG_008753.1:g.433128T>G; NM_138694.3:c.10628T>G ; NP_619639.3:p.Leu3543Trp
NM_138694.3:c.1736C>T	Saudi Arabia	NC_000006.12:g.52055687G>A	Benign, Likely Benign	Pathogenic	Polycystic Kidney Disease 4 with or without Polycystic Liver Disease	NG_008753.1:g.36939C>T; NM_138694.3:c.1736C>T; NP_619639.3:p.Thr579Met	45500692	96381
NM_138694.3:c.2027C>G	Saudi Arabia	NC_000006.12:g.52053189G>C	Benign, Likely Benign	Likely Benign	Polycystic Kidney Disease 4 with or without Polycystic Liver Disease	NG_008753.1:g.39437C>G; NM_138694.3:c.2027C>G; NP_619639.3:p.Pro676Arg	115045643	96383
NM_138694.3:c.3539G>A	Saudi Arabia	NC_000006.12:g.52028177C>T	Likely Pathogenic	Likely Pathogenic	Polycystic Kidney Disease 4 with or without Polycystic Liver Disease	NG_008753.1:g.64449G>A; NM_138694.3:c.3539G>A ; NP_619639.3:p.Gly1180Glu	1581827172	636692
NM_138694.3:c.4870C>T	Saudi Arabia	NC_000006.12:g.52024940G>A	Likely Pathogenic, Pathogenic, Uncertain Significance	Pathogenic	Polycystic Kidney Disease 4 with or without Polycystic Liver Disease	NG_008753.1:g.67686C>T; NM_138694.3:c.4870C>T; NP_619639.3:p.Arg1624Trp	200391019	188369
NM_138694.3:c.5725C>T	Saudi Arabia	NC_000006.12:g.52010335G>A	Benign, Likely Benign	Pathogenic	Polycystic Kidney Disease 4 with or without Polycystic Liver Disease	NG_008753.1:g.82291C>T; NM_138694.3:c.5725C>T; NP_619639.3:p.Arg1909Trp	115338476	96411
NM_138694.4:c.4417C>T	Lebanon	chr6:52025393	Pathogenic	Likely Pathogenic	Polycystic Kidney Disease 4 with or without Polycystic Liver Disease	NG_008753.1:g.67233C>T; NM_138694.4:c.4417C>T; NP_619639.3:p.Gln1473Ter	1554198717	556021
NM_138694.4:c.5086T>G	Lebanon	NC_000006.12:g.52024724A>C	Uncertain Significance	Likely Pathogenic	Renal Hypodysplasia/Aplasia 1	NG_008753.1:g.67902T>G; NM_138694.4:c.5086T>G; NP_619639.3:p.Ser1696Ala	1562160374	598017
NM_138694.4:c.7912-5T>G	Lebanon	NC_000006.12:g.51847975A>C	Likely Benign, Uncertain Significance	Likely Pathogenic	Polycystic Kidney Disease 4 with or without Polycystic Liver Disease	NG_008753.1:g.244651T>G; NM_138694.4:c.7912-5T>G; NP_619639.3:p.?	371510537	96425

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External Links

https://ghr.nlm.nih.gov/gene/PKHD1#conditions https://www.genecards.org/cgi-bin/carddisp.pl?gene=PKHD1

Contributors

Pratibha Nair: 04.11.2020
Pratibha Nair: 15.04.2020
Pratibha Nair: 25.01.2017
Sayeeda Hana: 08.12.2016
Ameera Balobaid: 23.11.2016

Edit History

Pratibha Nair: 04.11.2020
Pratibha Nair: 15.04.2020
Pratibha Nair: 05.12.2018
Sami Bizzari: 27.03.2017
Pratibha Nair: 26.03.2017

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