Version 2.78

Description

The APC gene (adenomatous polyposis coli) [HGNC Gene ID:583] is located on chromosome 5q21-q22. This gene encodes a tumor suppressor protein that acts as an antagonist of the Wnt signaling pathway. It is also involved in other processes including cell migration and adhesion, transcriptional activation, and apoptosis. Defects in this gene cause familial adenomatous polyposis (FAP), an autosomal dominant pre-malignant disease that usually progresses to malignancy. Disease-associated mutations tend to be clustered in a small region designated the mutation cluster region (MCR) and result in a truncated protein product. [provided by RefSeq, Jul 2008] [NCBI Gene ID:324] Source: National Center for Biotechnology Information (NCBI) Gene

Reference Information

Type Source Reference
Webcontent Online Mendelian Inheritance in Man®Copyright OMIM® and Online Mendelian Inheritance in Man® are registered trademarks of the Johns Hopkins University. Link to OMIM

Basic Part Properties

Part Display Name
APC gene
Part Type
Component (Describes the core component or analyte measured)
Created On
2000-05-04
Construct for LOINC Short Name
APC gene

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

CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=LP19474-3
ConceptMap translate
https://fhir.loinc.org/ConceptMap/$translate?system=http://loinc.org&code=LP19474-3

Language Variants Get Info

Tag Language Translation
zh-CN Chinese (China) APC 基因
Synonyms: APC基因;DP2;DP2.5;DP3;FAP;FPC;GS;大肠腺瘤样多发性息肉;大肠腺瘤样多发性息肉病;大肠腺瘤样息肉病;大肠腺瘤状多发性息肉;大肠腺瘤状多发性息肉病;大肠腺瘤状息肉病;家族性腺瘤性息肉病;家族性腺瘤样多发性息肉;家族性腺瘤样多发性息肉病;家族性腺瘤样息肉病;家族性腺瘤状多发性息肉;家族性腺瘤状多发性息肉病;家族性腺瘤状息肉病;结肠的腺瘤样多发性息肉;结肠的腺瘤样多发性息肉病;结肠的腺瘤样息肉病;结肠的腺瘤状多发性息肉;结肠的腺瘤状多发性息肉病;结肠的腺瘤状息肉病;结肠腺瘤病(aden
et-EE Estonian (Estonia) APC geen
es-ES Spanish (Spain) Gen APC
it-IT Italian (Italy) APC, gene
Synonyms: Gene APC
tr-TR Turkish (Turkey) APC geni
ru-RU Russian (Russian Federation) APC ген
nl-NL Dutch (Netherlands) APC-gen
Synonyms: APC gen