LP71414-4

COL10A1 gene

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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

Related Codes

Code System	Code	Code Text	Code Version
HUGO Gene Nomenclature Committee (HGNC)	HGNC:2185	COL10A1
National Center for Biotech Info (NCBI) Gene (National Center for Biotechnology Information (NCBI) Gene)	1300	COL10A1

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Language Variants Get Info

Tag	Language	Translation
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,
et-EE	Estonian (Estonia)	COL10A1 geen
es-ES	Spanish (Spain)	Gen COL10A1
it-IT	Italian (Italy)	COL10A1, gene Synonyms: Gene COL10A1
tr-TR	Turkish (Turkey)	COL10A1 geni
ru-RU	Russian (Russian Federation)	COL10A1 ген
nl-NL	Dutch (Netherlands)	COL10A1-gen Synonyms: COL10A1 gen
fr-FR	French (France)	COL10A1 gène
pl-PL	Polish (Poland)	COL10A1 gen Synonyms: Gen COL10A1
el-GR	Greek (Greece)	Γονίδιο COL10A1 Synonyms: Γονίδιο COL10A1

LOINC Copyright

Copyright © 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://loinc.org/license for the full LOINC copyright and license.