- accession:NM_001204197
- 基因别名:NBEA
- 基因描述:Homo sapiens neurobeachin (NBEA), transcript variant 2, mRNA.
- 载体:现货载体
- CDS区长度:2220
- 翻译后氨基酸长度:739
- TranscriptVariant:This variant (2) has a novel 5' UTR, lacks multiple 5' coding exons, and uses a downstream in-frame start codon, compared to variant 1. Variant 2 encodes a shorter protein (isoform 2) that lacks a neurobeachin pleckstrin homology-like domain and DUF1088 domain, compared to isoform 1.
- 基因简介:This gene encodes a member of a large, diverse group of A-kinase anchor proteins that target the activity of protein kinase A to specific subcellular sites by binding to its type II regulatory subunits. Brain-specific expression and coat protein-like membrane recruitment of a highly similar protein in mouse suggest an involvement in neuronal post-Golgi membrane traffic. Mutations in this gene may be associated with a form of autism. This gene and its expression are frequently disrupted in patients with multiple myeloma. Alternative splicing results in multiple transcript variants encoding distinct isoforms. Additional transcript variants may exist, but their full-length nature has not been determined.[provided by RefSeq, Feb 2011]
- 规格:10ul 质粒
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