Version 2.78

Description

The L1CAM gene (L1 cell adhesion molecule) [HGNC Gene ID:6470] is located on chromosome Xq28. The protein encoded by this gene is an axonal glycoprotein belonging to the immunoglobulin supergene family. The ectodomain, consisting of several immunoglobulin-like domains and fibronectin-like repeats (type III), is linked via a single transmembrane sequence to a conserved cytoplasmic domain. This cell adhesion molecule plays an important role in nervous system development, including neuronal migration and differentiation. Mutations in the gene cause X-linked neurological syndromes known as CRASH (corpus callosum hypoplasia, retardation, aphasia, spastic paraplegia and hydrocephalus). Alternative splicing of this gene results in multiple transcript variants, some of which include an alternate exon that is considered to be specific to neurons. [provided by RefSeq, May 2013] [NCBI Gene ID:3897] 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
L1CAM gene
Part Type
Component (Describes the core component or analyte measured)
Created On
2005-03-30
Construct for LOINC Short Name
L1CAM gene

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

CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=LP35582-3
ConceptMap translate
https://fhir.loinc.org/ConceptMap/$translate?system=http://loinc.org&code=LP35582-3

Language Variants Get Info

Tag Language Translation
zh-CN Chinese (China) L1CAM 基因
Synonyms: CAML1;CD171 基因;HGNC:7086;HSAS;HSAS1;L1 细胞粘附分子(脑积水, Sylvius 导水管狭窄 1, MASA (智力缺陷, 失语症, 曳步及拇指内收)综合征, 痉挛性截瘫 1);L1 细胞粘附分子(脑积水, Sylvius 导水管狭窄 1, MASA (智力缺陷, 失语症, 曳行及拇指内收)综合征, 痉挛性截瘫 1);L1 细胞粘附分子(脑积水, Sylvius 导水管狭窄 1, MASA (智力迟钝, 失语症, 曳步及拇指内收)综合征, 痉挛性截瘫 1);L1 细胞粘
et-EE Estonian (Estonia) L1CAM geen
es-ES Spanish (Spain) Gen L1CAM
it-IT Italian (Italy) L1CAM, gene
Synonyms: Gene L1CAM
tr-TR Turkish (Turkey) L1CAM geni
ru-RU Russian (Russian Federation) L1CAM ген
nl-NL Dutch (Netherlands) L1CAM-gen
Synonyms: L1CAM gen