IGHMBP2 immunoglobulin mu DNA binding protein 2

Gene ID: 3508, updated on 7-Apr-2024
Gene type: protein coding
Also known as: HCSA; HMN6; CATF1; CMT2S; HMNR1; SMARD1; SMUBP2; ZFAND7

Summary

This gene encodes a helicase superfamily member that binds a specific DNA sequence from the immunoglobulin mu chain switch region. Mutations in this gene lead to spinal muscle atrophy with respiratory distress type 1. [provided by RefSeq, Jul 2008]

Associated conditions

See all available tests in GTR for this gene

Description	Tests
Autosomal recessive distal spinal muscular atrophy 1 MedGen: C1858517OMIM: 604320GeneReviews: Not available	See labs
Charcot-Marie-Tooth disease axonal type 2S MedGen: C4015349OMIM: 616155GeneReviews: Not available	See labs
Charcot-Marie-Tooth disease type 2 MedGen: C0270914GeneReviews: Charcot-Marie-Tooth Hereditary Neuropathy Overview	See labs

Genomic context

Location:: 11q13.3

Sequence:: Chromosome: 11; NC_000011.10 (68903891..68940601)

Total number of exons:: 18

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Variation

Resource	Links for this gene
ClinVar	Variants reported to ClinVar
dbVar	Studies and variants
SNP	Variation Viewer for IGHMBP2 variants
Genome viewer	Explore NCBI-annotated and select non-NCBI annotated genome assemblies

Links

ClinVar
Related medical variations
dbVar
Link from Gene to dbVar
MedGen
Related information in MedGen
OMIM
Link to related OMIM entry
PubMed (OMIM)
Gene links to PubMed derived from omim_pubmed_cited links
RefSeq RNAs
Link to Nucleotide RefSeq RNAs
RefSeqGene
Link to Nucleotide RefSeqGenes
Variation Viewer
Related Variants

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