| Name | polycystic kidney and hepatic disease 1 (autosomal recessive) |
| Symbol | PKHD1 |
| Aliases | FCYT; ARPKD; TIGM1; tigmin; polyductin; fibrocystin; TIG multiple domains 1 |
| Gene Product | - polycystic kidney and hepatic disease 1 isoform 1
- polycystic kidney and hepatic disease 1 isoform 2
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| Category | |
| UniGene |
Hs.143943
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| Reference Sequence |
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| OMIM and SNP |
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| Locus |
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| 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 Ontology | |
| Expression | | EST (38 ESTs, 21 libraries) |
| Tissue | Breadth ? |
CPM ? |
| eye |  | | | germ cell | | | | kidney |  | | | lung | | | | muscle | | | | pancreas | | | | stomach | | | | testis | | | | uncharacterized tissue | | |
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| SAGE (3668159 tags, 66 libraries) |
| Tissue | Breadth ? |
CPM ? |
| brain | | | | cerebellum | | | | colon | | | | eye | | | | kidney | | | | mammary gland | | | | muscle | | | | nervous | | | | ovary | | | | pancreas | | | | prostate | | | | skin | | | | stomach | | | | uncharacterized tissue | | | | vascular | | |
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| Evidence | Mutation in Kidney Cystic Disease
- Bergmann C, Senderek J, Sedlacek B, Pegiazoglou I, Puglia P, Eggermann T, Rudnik-Schoneborn S, Furu L, Onuchic LF, De Baca M, Germino GG, Guay-Woodford L, Somlo S, Moser M, Buttner R, Zerres K Spectrum of mutations in the gene for autosomal recessive polycystickidney disease (ARPKD/PKHD1). J Am Soc Nephrol 2003 Jan;14(1):76-89.
- Rossetti S, Torra R, Coto E, Consugar M, Kubly V, Malaga S, Navarro M, El-Youssef M, Torres VE, Harris PC A complete mutation screen of PKHD1 in autosomal-recessive polycystickidney disease (ARPKD) pedigrees. Kidney Int 2003 Aug;64(2):391-403.
Other key publications related to this gene
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