Version 2.80

Description

The TCOF1 gene (Treacher Collins-Franceschetti syndrome 1) [HGNC Gene ID:11654] is located on chromosome 5q32. This gene encodes a nucleolar protein with a LIS1 homology domain. The protein is involved in ribosomal DNA gene transcription through its interaction with upstream binding factor (UBF). Mutations in this gene have been associated with Treacher Collins syndrome, a disorder which includes abnormal craniofacial development. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2008] [NCBI Gene ID:6949] 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 Name
TCOF1 gene
Part Display Name
TCOF1 gene
Part Type
Component (Describes the core component or analyte measured)
Created On
2004-10-28
Construct for LOINC Short Name
TCOF1 gene

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

CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=LP34680-6
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Language Variants Get Info

Tag Language Translation
zh-CN Chinese (China) TCOF1 基因
Synonyms: MFD1;Treacher Collins 综合征 1;Treacher Collins-Franceschetti 综合征 1;Treacle 蛋白;糖浆蛋白（Treacle protein）;糖滓蛋白（Treacle protein）;糖蜜蛋白（Treacle protein）
es-ES Spanish (Spain) Gen TCOF1
it-IT Italian (Italy) TCOF1, gene
Synonyms: Gene TCOF1
et-EE Estonian (Estonia) TCOF1 geen
tr-TR Turkish (Turkey) TCOF1 geni
ru-RU Russian (Russian Federation) TCOF1 ген
nl-NL Dutch (Netherlands) TCOF1-gen
Synonyms: TCOF1 gen
el-GR Greek (Greece) Γονίδιο TCOF1
Synonyms: Γονίδιο TCOF1