Version 2.78

Description

The HNF1A gene (HNF1 homeobox A) [HGNC Gene ID:11621] is located on chromosome 12q24.2. The protein encoded by this gene is a transcription factor required for the expression of several liver-specific genes. The encoded protein functions as a homodimer and binds to the inverted palindrome 5'-GTTAATNATTAAC-3'. Defects in this gene are a cause of maturity onset diabetes of the young type 3 (MODY3) and also can result in the appearance of hepatic adenomas. [provided by RefSeq, Mar 2009] [NCBI Gene ID:6927] Source: National Center for Biotechnology Information (NCBI) Gene

Basic Part Properties

Part Name
HNF1A gene
Part Display Name
HNF1A gene
Part Type
Component (Describes the core component or analyte measured)
Created On
2014-07-10
Construct for LOINC Short Name
HNF1A

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

CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=LP185369-8

Language Variants Get Info

Tag Language Translation
zh-CN Chinese (China) HNF1A 基因
Synonyms: HNF1 同源框 A;HNF1 同源盒 A;HNF1 同源异型框 A;HNF1 同源异型盒 A;HNF1 同源异形框 A;肝细胞核因子 1 同源框 A;肝细胞核因子 1 同源盒 A;肝细胞核因子 1 同源异型框 A;肝细胞核因子 1 同源异型盒 A;肝细胞核因子 1 同源异形框 A;HNF1 homeobox A;hepatocyte nuclear factor 1 homeobox A;转录因子 1;transcription factor 1 (TCF1);HNF-1A;HNF1;IDDM20;LF
es-ES Spanish (Spain) Gen HNF1A
it-IT Italian (Italy) HNF1A, gene
Synonyms: Gene HNF1A
tr-TR Turkish (Turkey) HNF1A geni
nl-NL Dutch (Netherlands) HNF1A-gen
Synonyms: HNF1A gen