Entrez 3508 | Ensembl ENSG00000132740 | |
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Aliases IGHMBP2, CATF1, HCSA, HMN6, SMARD1, SMUBP2, ZFAND7, CMT2S, immunoglobulin mu binding protein 2 External IDs MGI: 99954 HomoloGene: 1642 GeneCards: IGHMBP2 | ||
DNA-binding protein SMUBP-2, also known as immunoglobulin helicase μ-binding protein 2 (IGHMBP2) and cardiac transcription factor 1 (CATF1) – is a protein that in humans is encoded by the IGHMBP2 gene.
Mutations in the IGHMBP2 gene cause distal spinal muscular atrophy type 1 (distal hereditary motor neuropathy type VI).
References
IGHMBP2 Wikipedia(Text) CC BY-SA