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Description

The HNF1B gene (HNF1 homeobox B) [HGNC Gene ID:11630] is located on chromosome 17q12. This gene encodes a member of the homeodomain-containing superfamily of transcription factors. The protein binds to DNA as either a homodimer, or a heterodimer with the related protein hepatocyte nuclear factor 1-alpha. The gene has been shown to function in nephron development, and regulates development of the embryonic pancreas. Mutations in this gene result in renal cysts and diabetes syndrome and noninsulin-dependent diabetes mellitus, and expression of this gene is altered in some types of cancer. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Sep 2009] [NCBI Gene ID:6928] Source: National Center for Biotechnology Information (NCBI) Gene

Basic Part Properties

Part Name
HNF1B gene
Part Display Name
HNF1B gene
Part Type
Component (Describes the core component or analyte measured)
Created On
2014-07-10
Construct for LOINC Short Name
HNF1B

LOINC Terminology Service (API) using HL7® FHIR® Get Info

CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=LP185370-6

Language Variants Get Info

TagLanguageTranslation
zh-CNChinese (China)HNF1B 基因
Synonyms: HNF1 同源框 B;HNF1 同源盒 B;HNF1 同源异型框 B;HNF1 同源异型盒 B;HNF1 同源异形框 B;肝细胞核因子 1 同源框 B;肝细胞核因子 1 同源盒 B;肝细胞核因子 1 同源异型框 B;肝细胞核因子 1 同源异型盒 B;肝细胞核因子 1 同源异形框 B;HNF1 homeobox B;hepatocyte nuclear factor 1 homeobox B;转录因子 2;transcription factor 2 (TCF2);HNF1B;FJHN;HNF-1B;HNF
es-ESSpanish (Spain)Gen HNF1B
it-ITItalian (Italy)HNF1B, gene
Synonyms: Gene HNF1B
tr-TRTurkish (Turkey)HNF1B geni
nl-NLDutch (Netherlands)HNF1B-gen
Synonyms: HNF1B gen
fr-FRFrench (France)HNF1B gène
pl-PLPolish (Poland)HNF1B gen
Synonyms: Gen HNF1B
el-GRGreek (Greece)Γονίδιο HNF1B
Synonyms: Γονίδιο HNF1B