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The SMN1 gene is part of a 500 kb inverted duplication on chromosome 5q13. This duplicated region contains at least four genes and repetitive elements which make it prone to rearrangements and deletions. The repetitiveness and complexity of the sequence have also caused difficulty in determining the organization of this genomic region. The telomeric and centromeric copies of this gene are nearly identical and encode the same protein - survival motor neuron protein. The SMN complex plays a catalyst role in the assemble of small nuclear ribonucleoproteins, the building blocks of the spliceosome. Mutations in the SMN1 gene are known to cause spinal muscular atrophy 1/2.
仅用于科研。不用于诊断过程。未经明确授权不得转售。
蛋白别名: CAAT box DNA-binding protein subunit A; CAAT-box DNA binding protein subunit A; CAAT-box DNA-binding protein subunit A; CBF-A; CBF-B; CCAAT-binding transcription factor subunit A; CCAAT-binding transcription factor subunit B; FLJ11236; HAP2 CCAAT-binding protein; nf-y; NF-YA; Nuclear transcription factor Y subunit A; Nuclear transcription factor Y subunit alpha; nuclear transcription factor Y, alpha; Transcription factor NF-Y, A subunit
基因别名: AA407810; CBF-A; CBF-B; HAP2; NF-YA; NFYA; SEZ-10; SEZ10
UniProt ID: (Human) P23511, (Mouse) P23708, (Rat) P18576
Entrez Gene ID: (Human) 4800, (Mouse) 18044, (Rat) 29508