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Fibrocystin / PKHD1
polycystic kidney and hepatic disease 1 (autosomal recessive)
Fibrocystin / PKHD1 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 Name: | polycystic kidney and hepatic disease 1 (autosomal recessive) |
| Synonyms: | PKHD1, Fibrocystin, Polyductin, TIG multiple domains 1, Tigmin, ARPKD, FCYT |
| Target Sequences: | AL590391 Q5REF8 P08F94 |
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