Version 2.80

Description

The COL10A1 gene (collagen, type X, alpha 1) [HGNC Gene ID:2185] is located on chromosome 6q21-q22. This gene encodes the alpha chain of type X collagen, a short chain collagen expressed by hypertrophic chondrocytes during endochondral ossification. Unlike type VIII collagen, the other short chain collagen, type X collagen is a homotrimer. Mutations in this gene are associated with Schmid type metaphyseal chondrodysplasia (SMCD) and Japanese type spondylometaphyseal dysplasia (SMD). [provided by RefSeq, Jul 2008] [NCBI Gene ID:1300] 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
COL10A1 gene
Part Display Name
COL10A1 gene
Part Type
Component (Describes the core component or analyte measured)
Created On
2008-10-01
Construct for LOINC Short Name
COL10A1 gene

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

CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=LP71414-4
ConceptMap translate
https://fhir.loinc.org/ConceptMap/$translate?system=http://loinc.org&code=LP71414-4

Language Variants Get Info

Tag Language Translation
es-ES Spanish (Spain) Gen COL10A1
it-IT Italian (Italy) COL10A1, gene
Synonyms: Gene COL10A1
et-EE Estonian (Estonia) COL10A1 geen
zh-CN Chinese (China) COL10A1 基因
Synonyms: OTTHUMP00000017049;OTTHUMP00000040411;Schmid metaphyseal chondrodysplasia;Metaphyseal chondrodysplasia, Schmid type;干骺端软骨发育不全, Schmid 型;Schmid 型干骺端软骨发育不全;collagen X, alpha-1 polypeptide;胶原蛋白 X, alpha-1 多肽;type X collagen alpha 1;X 型胶原蛋白 alpha 1;collagen,
tr-TR Turkish (Turkey) COL10A1 geni
ru-RU Russian (Russian Federation) COL10A1 ген
nl-NL Dutch (Netherlands) COL10A1-gen
Synonyms: COL10A1 gen
el-GR Greek (Greece) Γονίδιο COL10A1
Synonyms: Γονίδιο COL10A1