| umls-concept:C0242991 | skos:definition | MSH: Genes related to the erbA DNA sequence that was first isolated from the avian erythroblastosis virus (ERYTHROBLASTOSIS VIRUS, AVIAN), v-erbA. In cells, erbA genes encode thyroid hormone receptors (RECEPTORS, THYROID HORMONE). Two distinct c-erbA genes have been identified: erbA-alpha located at 17q21; and erbA-beta located at 3p24. Truncations at the N- and C-terminals of erbA result in products resembling v-erbA. Truncations affect hormone responsiveness but not DNA binding capacity.,NCI: Two ERBA proto-oncogenes located on separate chromosomes, encode ERBA alpha and ERBA beta, which are thyroid hormone receptors in the nucleus and bind DNA to activate transcription. Multiple thyroid hormone receptor (THR) genes may be encoded in the human genome and perhaps as many as five loci with varying expression in different tissues and stages of development. The ERBA1 gene at 17q11.2 encodes ERBA alpha-1, ERBA alpha-2, and ERBA alpha-3, each produced by alternative splicing. All ERBA1 transcripts are coordinatel | lld:umls |
