Version 2.78

Description

The FKRP gene (fukutin related protein) [HGNC Gene ID:17997] is located on chromosome 19q13.32. This gene encodes a protein which is targeted to the medial Golgi apparatus and is necessary for posttranslational modification of dystroglycan. Mutations in this gene have been associated with congenital muscular dystrophy, mental retardation, and cerebellar cysts. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some of these variants has not been determined. [provided by RefSeq, Oct 2008] [NCBI Gene ID:79147] 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
FKRP gene
Part Type
Component (Describes the core component or analyte measured)
Created On
2005-07-11
Construct for LOINC Short Name
FKRP gene

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

CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=LP35860-3
ConceptMap translate
https://fhir.loinc.org/ConceptMap/$translate?system=http://loinc.org&code=LP35860-3

Language Variants Get Info

Tag Language Translation
zh-CN Chinese (China) FKRP 基因
Synonyms: FLJ12576;Fukutin 相关蛋白基因;LGMD2I;MDC1C;MGC2991;福山蛋白 (Fukutin) 相关蛋白基因
et-EE Estonian (Estonia) FKRP geen
es-ES Spanish (Spain) Gen FKRP
it-IT Italian (Italy) FKRP, gene
Synonyms: Gene FKRP
tr-TR Turkish (Turkey) FKRP geni
ru-RU Russian (Russian Federation) FKRP ген
nl-NL Dutch (Netherlands) FKRP-gen
Synonyms: FKRP gen