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MA5-31848 has been tested in indirect ELISA.
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.
仅用于科研。不用于诊断过程。未经明确授权不得转售。
蛋白别名: AI118496; AI182499; Fibrocystin; Polycystic kidney and hepatic disease 1 protein; Polyductin; TIG multiple domains 1; Tigmin
基因别名: AI118496; AI182499; ARPKD; FCYT; FPC; PKHD1; TIGM1
UniProt ID: (Human) P08F94, (Mouse) E9PZ36
Entrez Gene ID: (Human) 5314, (Mouse) 241035