Description

The CTSK gene (cathepsin K) [HGNC Gene ID:2536] is located on chromosome 1q21. The protein encoded by this gene is a lysosomal cysteine proteinase involved in bone remodeling and resorption. This protein, which is a member of the peptidase C1 protein family, is predominantly expressed in osteoclasts. However, the encoded protein is also expressed in a significant fraction of human breast cancers, where it could contribute to tumor invasiveness. Mutations in this gene are the cause of pycnodysostosis, an autosomal recessive disease characterized by osteosclerosis and short stature. [provided by RefSeq, Apr 2013] [NCBI Gene ID:1513] Source: National Center for Biotechnology Information (NCBI) Gene

Basic Part Properties

Part Name
CTSK gene
Part Display Name
CTSK gene
Part Type
Component (Describes the core component or analyte measured)
Created On
2016-03-17
Construct for LOINC Short Name
CTSK

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

CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=LP208427-7

Language Variants Get Info

TagLanguageTranslation
zh-CNChinese (China)CTSK 基因
Synonyms: 组织蛋白酶 K;组织蛋白酶 O2;Cathepsin K;Cathepsin O2;EC 3.4.22.38
es-ESSpanish (Spain)Gen CTSK
it-ITItalian (Italy)CTSK, gene
Synonyms: Gene CTSK
nl-NLDutch (Netherlands)CTSK-gen
Synonyms: CTSK gen
fr-FRFrench (France)CTSK gène
pl-PLPolish (Poland)CTSK gen
Synonyms: Gen CTSK
el-GRGreek (Greece)Γονίδιο CTSK
Synonyms: Γονίδιο CTSK