- 产品货号产品名称规格
- AP151032人 ALDH18A1 (NM_002860) cDNA克隆质粒5ug/甘油菌500ul
基因描述
价格
到货周期
基本信息
| Accession: | NM_002860 |
|---|---|
| 基因名称: | ALDH18A1 |
| 基因别名: | GSAS; P5CS; PYCS; ARCL3A |
| 基因描述: | Homo sapiens aldehyde dehydrogenase 18 family, member A1 (ALDH18A1), transcript variant 1, mRNA. |
| 种属: | Human |
| CDS区长度: | 2388 |
| 翻译后氨基酸长度: | 795 |
| Transcript Variant: | This variant (1), also known as P5CSL, represents the longer transcript and encodes the longer isoform (1). |
载体信息
详情描述
This gene is a member of the aldehyde dehydrogenase family and encodes a bifunctional ATP- and NADPH-dependent mitochondrial enzyme with both gamma-glutamyl kinase and gamma-glutamyl phosphate reductase activities. The encoded protein catalyzes the reduction of glutamate to delta1-pyrroline-5-carboxylate, a critical step in the de novo biosynthesis of proline, ornithine and arginine. Mutations in this gene lead to hyperammonemia, hypoornithinemia, hypocitrullinemia, hypoargininemia and hypoprolinemia and may be associated with neurodegeneration, cataracts and connective tissue diseases. Alternatively spliced transcript variants, encoding different isoforms, have been described for this gene. [provided by RefSeq, Jul 2008]
CDS区序列
ATGTTGAGTCAAGTTTACCGCTGTGGGTTCCAGCCCTTCAACCAACATCTTCTGCCCTGGGTCAAGTGTA
CAACCGTCTTCAGATCTCATTGTATCCAGCCTTCAGTCATCAGACATGTTCGTTCTTGGAGCAACATCCC
GTTTATCACTGTACCCCTCAGTCGTACACATGGCAAGTCCTTCGCCCACCGCAGTGAGCTGAAGCATGCC
AAGAGAATCGTGGTGAAGCTCGGCAGTGCCGTGGTGACCCGAGGGGATGAATGTGGCCTGGCCCTGGGGC
GCTTGGCATCTATTGTTGAGCAGGTATCAGTGCTGCAGAATCAGGGCAGAGAGATGATGCTGGTGACCAG
TGGAGCCGTAGCCTTTGGCAAACAACGCTTGCGCCATGAGATCCTTCTGTCTCAGAGCGTGCGGCAGGCC
CTCCACTCGGGGCAGAACCAGCTGAAAGAAATGGCAATTCCAGTCTTAGAGGCACGAGCCTGTGCAGCTG
CCGGACAGAGTGGGCTGATGGCCTTGTATGAGGCTATGTTTACCCAGTACAGCATCTGTGCTGCCCAGAT
TTTGGTGACCAATTTGGATTTCCATGATGAGCAGAAGCGCCGGAACCTCAATGGAACACTTCATGAACTC
CTTAGAATGAACATTGTCCCCATTGTCAACACAAATGATGCTGTTGTCCCCCCAGCTGAGCCCAACAGTG
ACCTGCAGGGGGTAAATGTTATTAGTGTTAAAGATAATGATAGCCTGGCTGCCCGACTGGCTGTGGAAAT
GAAAACTGATCTCTTGATTGTTCTTTCAGATGTAGAAGGCCTTTTTGACAGCCCCCCAGGTTCAGATGAT
GCAAAGCTTATTGATATATTTTATCCCGGAGATCAGCAGTCTGTGACATTTGGAACCAAGTCTAGAGTGG
GAATGGGTGGCATGGAAGCCAAGGTGAAAGCAGCCCTCTGGGCTTTGCAAGGTGGCACTTCTGTTGTTAT
TGCCAATGGAACCCACCCAAAGGTGTCTGGGCACGTCATCACAGACATTGTGGAGGGGAAGAAAGTTGGT
ACCTTCTTTTCAGAAGTAAAGCCTGCAGGCCCTACTGTTGAGCAGCAGGGAGAAATGGCGCGATCTGGAG
GAAGGATGTTGGCCACCTTGGAACCTGAGCAGAGAGCAGAAATTATCCATCATCTGGCTGATCTGTTGAC
GGACCAGCGTGATGAGATCCTGTTAGCCAACAAAAAAGACTTGGAGGAGGCAGAGGGGAGACTTGCAGCT
CCTCTGCTGAAACGTTTAAGCCTCTCCACATCCAAATTGAACAGCCTGGCCATCGGTCTGCGACAGATCG
CAGCCTCCTCCCAGGACAGCGTGGGACGTGTTTTGCGCCGCACCCGAATCGCCAAAAACTTGGAACTGGA
ACAAGTGACTGTCCCAATTGGAGTTCTGCTGGTGATCTTTGAATCTCGTCCTGACTGTCTACCCCAGGTG
GCAGCTTTGGCTATCGCAAGTGGCAATGGCTTGTTACTCAAAGGAGGGAAGGAGGCTGCACACAGCAACC
GGATTCTCCACCTCCTGACCCAGGAGGCTCTCTCAATCCATGGAGTCAAGGAGGCCGTGCAACTGGTGAA
TACCAGAGAAGAAGTTGAAGATCTTTGCCGCCTAGACAAAATGATAGATCTGATCATTCCACGTGGCTCT
TCCCAGCTGGTCAGAGACATCCAGAAAGCTGCTAAGGGGATTCCAGTGATGGGGCACAGCGAAGGGATCT
GTCACATGTATGTGGATTCCGAGGCCAGTGTTGATAAGGTCACCAGGCTAGTCAGAGACTCTAAATGTGA
ATATCCAGCTGCCTGTAATGCTTTGGAGACTTTGTTAATCCACCGGGATCTGCTCAGGACACCATTATTT
GACCAGATCATTGATATGCTGAGAGTGGAACAGGTAAAAATTCATGCAGGCCCCAAATTTGCCTCCTATC
TGACCTTCAGCCCCTCCGAAGTGAAGTCACTCCGAACTGAGTATGGGGACCTGGAATTATGCATTGAAGT
AGTGGACAACGTTCAGGATGCCATTGACCACATCCACAAGTATGGCAGCTCCCACACGGATGTCATCGTC
ACAGAGGACGAAAACACAGCGGAGTTCTTCCTGCAGCACGTAGACAGTGCCTGTGTGTTCTGGAATGCCA
GCACTCGCTTTTCTGATGGTTACCGCTTTGGACTGGGAGCTGAAGTGGGAATCAGTACATCGAGAATCCA
CGCCCGGGGACCAGTAGGACTTGAGGGACTGCTTACTACTAAGTGGCTGCTGCGAGGGAAGGACCACGTG
GTCTCAGATTTCTCAGAGCATGGAAGTTTAAAATATCTTCATGAGAACCTCCCTATTCCTCAGAGAAACA
CCAACTGA
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