人 EPB41 (NM_203343) cDNA克隆

Accession: NM_203343
基因名称: EPB41
基因别名: HE; EL1; 4.1R
基因描述: Homo sapiens erythrocyte membrane protein band 4.1 (elliptocytosis 1, RH-linked) (EPB41), transcript variant 2, mRNA.
种属: Human
CDS区长度: 2328 (查看编码区序列)
翻译后氨基酸长度: 775 (查看氨基酸序列)
Transcript Variant: This variant (2) is missing several short, internal, in-frame coding exons compared to variant 1, resulting in a shorter isoform (2) compared to isoform 1.
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G104312 人 EPB41 (NM_203343) cDNA克隆 pDONR223 2ug质粒 点击询价

The protein encoded by this gene, together with spectrin and actin, constitute the red cell membrane cytoskeletal network. This complex plays a critical role in erythrocyte shape and deformability. Mutations in this gene are associated with type 1 elliptocytosis (EL1). Alternatively spliced transcript variants encoding different isoforms have been described for this gene.[provided by RefSeq, Oct 2009]