人 ARSA (NM_001085428) cDNA克隆

基本信息

Accession: NM_001085428
基因名称: ARSA
基因别名: MLD
基因描述: Homo sapiens arylsulfatase A (ARSA), transcript variant 5, mRNA.
种属: Human
CDS区长度: 1272 (查看编码区序列)
翻译后氨基酸长度: 423 (查看氨基酸序列)
Transcript Variant: This variant (5) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at a downstream start codon, compared to variant 1. The encoded isoform (b) is shorter than isoform a.

订购信息

产品编号 产品名称 载体 规格 价格
G111861 人 ARSA (NM_001085428) cDNA克隆 pDONR223 2ug质粒 点击询价

载体信息

pDONR223载体图谱

相关转录本

人 ARSA (NM_000487) cDNA克隆 transcript variant 1
人 ARSA (NM_001085425) cDNA克隆 transcript variant 2
人 ARSA (NM_001085426) cDNA克隆 transcript variant 3
人 ARSA (NM_001085427) cDNA克隆 transcript variant 4
人 ARSA (NM_001085428) cDNA克隆 transcript variant 5

基因简介

The protein encoded by this gene hydrolyzes cerebroside sulfate to cerebroside and sulfate. Defects in this gene lead to metachromatic leucodystrophy (MLD), a progressive demyelination disease which results in a variety of neurological symptoms and ultimately death. Alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Dec 2010]

相关产品