LP71440-9
SMC1A gene
Active
Description
The SMC1A gene (structural maintenance of chromosomes 1A) [HGNC Gene ID:11111] is located on chromosome Xp11.22-p11.21. Proper cohesion of sister chromatids is a prerequisite for the correct segregation of chromosomes during cell division. The cohesin multiprotein complex is required for sister chromatid cohesion. This complex is composed partly of two structural maintenance of chromosomes (SMC) proteins, SMC3 and either SMC1B or the protein encoded by this gene. Most of the cohesin complexes dissociate from the chromosomes before mitosis, although those complexes at the kinetochore remain. Therefore, the encoded protein is thought to be an important part of functional kinetochores. In addition, this protein interacts with BRCA1 and is phosphorylated by ATM, indicating a potential role for this protein in DNA repair. This gene, which belongs to the SMC gene family, is located in an area of the X-chromosome that escapes X inactivation. Mutations in this gene result in Cornelia de Lange syndrome. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2013] [NCBI Gene ID:8243] 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
- SMC1A gene
- Part Display Name
- SMC1A gene
- Part Type
- Component (Describes the core component or analyte measured)
- Created On
- 2008-10-01
- Construct for LOINC Short Name
- SMC1A gene
LOINC Terminology Service (API) using HL7® FHIR® Get Info
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Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| zh-CN | Chinese (China) | SMC1A 基因 Synonyms: CDLS2; |
| et-EE | Estonian (Estonia) | SMC1A geen |
| es-ES | Spanish (Spain) | Gen SMC1A |
| it-IT | Italian (Italy) | SMC1A, gene Synonyms: Gene SMC1A |
| tr-TR | Turkish (Turkey) | SMC1A geni |
| ru-RU | Russian (Russian Federation) | SMC1A ген |
| nl-NL | Dutch (Netherlands) | SMC1A-gen Synonyms: SMC1A gen |
| fr-FR | French (France) | SMC1A gène |
| pl-PL | Polish (Poland) | SMC1A gen Synonyms: Gen SMC1A |
| el-GR | Greek (Greece) | Γονίδιο SMC1A Synonyms: Γονίδιο SMC1A |
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://