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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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PLEASE NOTE

For RESEARCH USE ONLY. Intended for use by laboratory professionals. Not intended for human diagnostic or therapeutic purposes.

The data on this page has been compiled from LifeSpan internal sources, the National Center for Biotechnology Information (NCBI), and The Universal Protein Resource (UniProt).