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Immunohistochemistry (Formalin/PFA-fixed paraffin-embedded sections)

Immunohistochemical staining of human liver with PKHD1 polyclonal antibody (Cat # PAB22531) shows strong cytoplasmic positivity in hepatocytes.

Entrez GeneID

5314

Protein Accession#

P08F94

Gene Name

PKHD1

Gene Alias

ARPKD, DKFZp686C01112, FCYT, FLJ46150, TIGM1

Gene Description

polycystic kidney and hepatic disease 1 (autosomal recessive)

Omim ID

263200 606702

Gene Ontology

Hyperlink

Gene 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. [provided by RefSeq

Other Designations

OTTHUMP00000016598|OTTHUMP00000016599|TIG multiple domains 1|fibrocystin|polyductin|tigmin