LP30749-3
BLM gene
Active
Description
The BLM gene (Bloom syndrome, RecQ helicase-like) [HGNC Gene ID:1058] is located on chromosome 15q26.1. The Bloom syndrome gene product is related to the RecQ subset of DExH box-containing DNA helicases and has both DNA-stimulated ATPase and ATP-dependent DNA helicase activities. Mutations causing Bloom syndrome delete or alter helicase motifs and may disable the 3'-5' helicase activity. The normal protein may act to suppress inappropriate recombination. [provided by RefSeq, Jul 2008] [NCBI Gene ID:641] 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 Display Name
- BLM gene
- Part Type
- Component (Describes the core component or analyte measured)
- Created On
- 2002-10-07
- Construct for LOINC Short Name
- BLM gene
LOINC Terminology Service (API) using HL7® FHIR® Get Info
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- CodeSystem lookup
- https:
//fhir.loinc.org/CodeSystem/$lookup?system=http: //loinc.org&code=LP30749-3 - ConceptMap translate
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//fhir.loinc.org/ConceptMap/$translate?system=http: //loinc.org&code=LP30749-3
Language Variants Get Info
Tag | Language | Translation |
---|---|---|
zh-CN | Chinese (China) | BLM 基因 Synonyms: Bloom 综合征; |
et-EE | Estonian (Estonia) | BLM geen |
es-ES | Spanish (Spain) | Gen BLM |
it-IT | Italian (Italy) | BLM, gene Synonyms: Gene BLM |
tr-TR | Turkish (Turkey) | BLM geni |
ru-RU | Russian (Russian Federation) | BLM ген |
nl-NL | Dutch (Netherlands) | BLM-gen Synonyms: BLM gen |
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