Version 2.77

Description

The CFTR gene (cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)) [HGNC Gene ID:1884] is located on chromosome 7q31.2. This gene encodes a member of the ATP-binding cassette (ABC) transporter superfamily. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the MRP subfamily that is involved in multi-drug resistance. The encoded protein functions as a chloride channel and controls the regulation of other transport pathways. Mutations in this gene are associated with the autosomal recessive disorders cystic fibrosis and congenital bilateral aplasia of the vas deferens. Alternatively spliced transcript variants have been described, many of which result from mutations in this gene. [provided by RefSeq, Jul 2008] [NCBI Gene ID:1080] 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
CFTR gene
Part Type
Component (Describes the core component or analyte measured)
Created On
2000-05-04
Construct for LOINC Short Name
CFTR

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

CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=LP19684-7
ConceptMap translate
https://fhir.loinc.org/ConceptMap/$translate?system=http://loinc.org&code=LP19684-7

Language Variants Get Info

Tag Language Translation
zh-CN Chinese (China) CFTR 基因
Synonyms: ABC35;ABCC7;CBAVD;CFA;MRP7;囊性纤维化跨膜转运调节物;囊性纤维化转膜传导调节因子;囊性纤维变性跨膜传导调节因子;囊性纤维变性跨膜传导调节蛋白;囊肿性纤维化跨膜传导调节因子;囊肿性纤维化跨膜传导调节蛋白
et-EE Estonian (Estonia) CFTR geen
es-ES Spanish (Spain) Gen CFTR
it-IT Italian (Italy) CFTR, gene
Synonyms: Gene CFTR
el-GR Greek (Greece) Γονίδιο CFTR
tr-TR Turkish (Turkey) CFTR geni
ru-RU Russian (Russian Federation) CFTR ген
nl-NL Dutch (Netherlands) CFTR-gen
Synonyms: CFTR gen