HOXA2 Antibody, Biotin conjugated

1. Performed mutational analysis of TCOF1, GSC, and HOXA2 to determine the mutational features of the 3 genes in Chinese patients with Treacher Collins syndrome. PMID: 27526242
2. The role of HOXA2 gene in dominant isolated microtia and the dysmorphogenetic effect of this gene on ear development PMID: 27503514
3. 5 genomic variants in GSC, HOXA2 and PRKRA were identified through mutational analysis in Chinese patients with microtia. PMID: 28109504
4. The Hoxa2-mediated decay of RCHY1 involves both the 19S and 20S proteasome complexes PMID: 26496426
5. HOXA2 acts as a suppressor or TBP-antagonist to inhibit MMP-9 expression; while methylation-mediated inactivation of HOXA2 in NPC derepresses MMP-9 production and increases invasion of NPC cells. PMID: 24243817
6. we have identified a nonsense mutation (Q235*) in HOXA2 that segregates with bilateral nonsyndromic microtia and hearing loss through three generations of a family in an autosomal dominant pattern. PMID: 23775976
7. Lack of mutations in the coding region of HOXA2 among the sporadic microtia patients. PMID: 20542577
8. A missense mutation in the HOXA2 in a consanguineous iranian family with bilateral microtia was reported. PMID: 18394579

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HGNC: 5103

OMIM: 604685

KEGG: hsa:3199

STRING: 9606.ENSP00000222718

UniGene: Hs.445239