Recombinant Human DNA-binding protein SMUBP-2 (IGHMBP2), partial

1. detected IGHMBP2 mutations in a cohort of Chinese Charcot-Marie-Tooth disease type 2 patients; four mutations, c.1489G > A, c.2356delG, c.2597_2598delAG and c.1061-2A > G, are reported for the first time PMID: 28065684
2. We present the original report of Charcot-Marie-Tooth disease (CMT) type 2S in Japan, and illustrate that recessive IGHMBP2 variants account for ~1.6% of axonal CMT in our cohort. PMID: 28202949
3. Case report and review of 20 reported spinal muscular atrophy with respiratory distress type I cases that have no respiratory involvement or have late onsets, propose that IGHMBP2 gene mutations are characterized by significant phenotypic heterogeneity PMID: 26922252
4. demonstration of 2 additional mutations in the IGHMBP2 gene associated with hereditary motor and sensory neuropathy PMID: 26136520
5. The IGHMBP2 gene was not found to be a major causative gene linked to Han Chinese non-5q-spinal muscular atrophy patients. PMID: 24022109
6. Spinal muscular atrophy with respiratory distress type 1 that is related to mutations in the IGHMBP2 gene, which encodes for the immunoglobulin mu-binding protein. PMID: 25248952
7. Mutations in IGHMBP2 were identified in patients presenting with axonal sensorimotor neuropathy. PMID: 25568292
8. IGHMBP2 overexpression may promote invasion and migration of esophageal squamous carcinoma cells through down-regulation of E-cadherin. PMID: 25881701
9. Truncating and missense mutations in IGHMBP2 cause Charcot-Marie Tooth disease type 2. PMID: 25439726
10. 6 novel IGHMBP2 mutations were identified in 5 SMARD1 patietns PMID: 24388491
11. Genetic studies identified 2 mutations in the gene IGHMBP2. These results support the consideration of this entity as a form of sensory-motor rapidly progressive polyneuropathy. PMID: 22791546
12. Results reveal the critical role of the R3H domain in modulation of enzymatic and RNA-binding activities of Ighmbp2. PMID: 22965130
13. report the NMR structure of the Smubp2-R3H in complex with deoxyguanosine 5'-monophosphate (dGMP) mimicking the 5'-end of single-stranded DNA PMID: 22999958
14. mutations in the IGHMBP2 gene of patients with more favorable outcomes retained residual enzymatic activity. PMID: 22157136
15. Variation in IGHMBP2 does not confer significant susceptibility to IgA nephropathy in UK Caucasian or Chinese Han populations. PMID: 20031928
16. Taken together, these observations suggest that the duplicated GGAA motifs are essential for the IGHMBP2 promoter activity and its positive response to TPA in HL-60 cells. PMID: 20441787
17. NMR solution structure of the R3H domain from human Smubp-2 PMID: 12547203
18. association between IgA nephropathy and an SNP located in the gene encoding immunoglobulin micro-binding protein 2 (IGHMBP2) at chromosome 11q13.2-q13.4 PMID: 15599641
19. IGHMBP2 may not have a role in development of breast cancer in female smokers PMID: 16752224
20. 2 novel heterozygous IGHMBP2 mutations in two cases of SMARD1 were identified: 1061G>A, amino acid substitution G354S, exon 7; 129delC, frameshift mutation, exon 2. PMID: 16964485
21. Juvenile SMARD1 with onset in early childhood can also be caused by mutations of IGHMBP2.5 In accordance with the known phenotypical overlapping between SOD1-associated fALS and SMA, we investigated a selected group of eight sporadic ALS patients. PMID: 18187479
22. Clinical variability in distal spinal muscular atrophy type 1 (DSMA1): determination of steady-state IGHMBP2 protein levels in five patients with infantile and juvenile disease. PMID: 18802676
23. SMARD1 phenotype should be considered in cases of atypical spinal muscular atrophy even in the absence of overt diaphragmatic weakness. PMID: 19157874
24. IGHMBP2 is functionally linked to translation, and that mutations in its helicase domain interfere with this function in distal spinal muscular atrophy type 1 patients. PMID: 19158098

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HGNC: 5542

OMIM: 600502

KEGG: hsa:3508

STRING: 9606.ENSP00000255078

UniGene: Hs.503048