LP208435-0
GALC gene
Active
Description
The GALC gene (galactosylceramidase) [HGNC Gene ID:4115] is located on chromosome 14q31. This gene encodes a lysosomal protein which hydrolyzes the galactose ester bonds of galactosylceramide, galactosylsphingosine, lactosylceramide, and monogalactosyldiglyceride. Mutations in this gene have been associated with Krabbe disease, also known as globoid cell leukodystrophy. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008] [NCBI Gene ID:2581] Source: National Center for Biotechnology Information (NCBI) Gene
Basic Part Properties
- Part Name
- GALC gene
- Part Display Name
- GALC gene
- Part Type
- Component (Describes the core component or analyte measured)
- Created On
- 2016-03-17
- Construct for LOINC Short Name
- GALC
LOINC Terminology Service (API) using HL7® FHIR® Get Info
Requests to this service require a free LOINC username and password. Below is a sample of the possible capabilities. See the LOINC Terminology Service documentation for more information.
- CodeSystem lookup
- https:
//fhir.loinc.org/CodeSystem/$lookup?system=http: //loinc.org&code=LP208435-0
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| it-IT | Italian (Italy) | Gene GALC |
| zh-CN | Chinese (China) | GALC 基因 Synonyms: 半乳糖神经酰胺酶; |
| es-ES | Spanish (Spain) | Gen GALC |
| nl-NL | Dutch (Netherlands) | GALC-gen Synonyms: GALC gen |
| el-GR | Greek (Greece) | Γονίδιο GALC Synonyms: Γονίδιο GALC |
LOINC Copyright
Copyright © 2025 Regenstrief Institute, Inc. All Rights Reserved. To the extent included herein, the LOINC table and LOINC codes are copyright © Regenstrief Institute, Inc. and the Logical Observation Identifiers Names and Codes (LOINC) Committee. See https://