Version 2.78

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

CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=LP30749-3
ConceptMap translate
https://fhir.loinc.org/ConceptMap/$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;BS;RECQ2;RECQL3;布伦氏症候群;布卢姆综合征;布卢姆综合征(特征为矮小,颧骨发育不良,面部毛细血管扩张性红斑);布鲁姆氏综合征;霜粉综合征;霜粉综合征(一种退化性的遗传性皮肤病;多见于东欧犹太人的后裔。患者身材矮小,对日光敏感,故面部常有微血管扩张性红斑)
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