Recombinant Human Homeobox protein Hox-C13 (HOXC13)

1. we report a novel nonsense variant (c.265C>T, p.Gln89*) in the HOXC13 gene, which resulted in a premature termination codon and is predicted either to produce a truncated protein without an essential DNA binding homeodomain or more likely to undergo nonsense-mediated RNA decay- ultimately producing the PHNED (pure hair and nail ectodermal dysplasia) phenotype. PMID: 28543635
2. Study showed that HOXC13 expression was significantly elevated in esophageal squamous cell carcinoma (ESCC), and correlated with worse clinical characteristics and poorer prognosis. HOXC13 promoted proliferation and inhibited apoptosis through repressing transcription of CASP3. PMID: 29168599
3. Mutations in Hoxc13 is associated with ectodermal dysplasia-9. PMID: 28011715
4. A novel missense mutation (c.929A > C) in HOXC13 gene associated with pure hair and nail ectodermal dysplasia (ECTD9) in a Pakistani family. PMID: 28403827
5. The microdeletions share a minimal non-coding region overlap upstream of HOXC13, with variable phenotypes depending upon HOXC13, HOXC12 or thIdentification of 5' HOXC microdeletions highlights the importance of transcriptional regulators in the aetiology of severe lower limb malformations and will improve their diagnosis and managemente HOTAIR lncRNA inclusion. PMID: 26729820
6. In conclusion, our data show a deregulation of the HOXC13 marker in welldifferentiated and dedifferentiated LPSs, possibly related to 12q13-15 chromosomal amplification. PMID: 24085196
7. Results show that duplication and nonsense mutation lead to loss of function in this gene and the role it plays in hair and nail development PMID: 23461661
8. Identification of a homozygous mutation in the HOXC13 gene in a Syrian family with autosomal-recessive pure hair and nail ectodermal dysplasia. PMID: 23315978
9. results show the strong and progressive HOX C13 overexpression in metastatic melanoma tissues and cytological samples compared to nevi and primary melanoma tissues and cells. PMID: 22583695
10. loss-of-function mutations in HOXC13 cause autosomal-recessive PHNED and further highlight the importance of HOXC13 in hair and nail development. PMID: 23063621
11. Krtap16 is a hair keratin-associated protein gene complex regulated by Hoxc13 PMID: 15385554
12. HOXC13 was highly expressed in ameloblastoma. Heterogeneous expression could improve the epithelial proliferation, and its loss may lead to the cornification and degeneration of epithelial cells. PMID: 17331444
13. Results show that HOXC13 is a member of human replicative complexes. PMID: 19182517
14. To our knowledge, this is the first case of t(11;12)(p15;q13) in de novo AML-M4 in association with FLT3 ITD mutation. Coexistence of NUP98-HOXC13 fusion and FLT3 ITD mutation is likely relevant in the process of leukemogenesis PMID: 19665070

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HGNC: 5125

OMIM: 142976

KEGG: hsa:3229

STRING: 9606.ENSP00000243056

UniGene: Hs.118608