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Medical condition
autosomal dominant manner, and it has been linked to a mutation in the RHBDF2 gene. It was first described in 1958. This condition is inherited as an
Howel–Evans_syndrome
Protein-coding gene in the species Homo sapiens
Inactive rhomboid protein 2 is a protein that in humans is encoded by the RHBDF2 gene. The alternative name iRhom2 has been proposed, in order to clarify
RHBDF2
Malignant neoplastic disease of the esophagus
autosomal dominant inheritance that has been linked to a mutation in the RHBDF2 gene, present on chromosome 17: it involves thickening of the skin of the
Esophageal_cancer
Human chromosome
3) ENPP7: ectonucleotide pyrophosphatase/phosphodiesterase 7 (17q25.3) RHBDF2: Rhomboid family member 2 (17q25.3) TMC6 and TMC8: Transmembrane channel-like
Chromosome_17
Q6NTF9 13720 RHBDD3 HGNC:1308; Q9Y3P4 13721 RHBDF1 HGNC:20561; Q96CC6 13722 RHBDF2 HGNC:20788; Q6PJF5 13723 RHBDL1 HGNC:10007; O75783 13724 RHBDL2 HGNC:16083;
List of human protein-coding genes 7
List_of_human_protein-coding_genes_7
Protein-coding gene in the species Homo sapiens
"Alzheimer's disease: early alterations in brain DNA methylation at ANK1, BIN1, RHBDF2 and other loci". Nature Neuroscience. 17 (9): 1156–1163. doi:10.1038/nn
Ankyrin-1
Protein family
include a subfamily that have been named the iRhoms (also known as RHBDF1 and RHBDF2). iRhoms can promote the ER associated degradation (ERAD) of EGF receptor
Rhomboid_protease
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