人 ABHD11 (NM_001145364) cDNA克隆

Accession: NM_001145364
基因名称: ABHD11
基因别名: PP1226; WBSCR21
基因描述: Homo sapiens abhydrolase domain containing 11 (ABHD11), transcript variant 8, mRNA.
种属: Human
CDS区长度: 777 (查看编码区序列)
翻译后氨基酸长度: 258 (查看氨基酸序列)
Transcript Variant: This variant (8) omits a coding exon, compared to variant 1, resulting in a shorter protein (isoform 8).
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G104835 人 ABHD11 (NM_001145364) cDNA克隆 pDONR223 2ug质粒 点击询价

This gene encodes a protein containing an alpha/beta hydrolase fold domain. This gene is deleted in Williams syndrome, a multisystem developmental disorder caused by the deletion of contiguous genes at 7q11.23. Alternatively spliced transcript variants have been described, but their biological validity has not been determined. [provided by RefSeq, Jul 2008]