Accession: | NM_000032 |
---|---|
基因名称: | ALAS2 |
基因别名: | ASB; ANH1; XLSA; ALASE; XLDPP; XLEPP; ALAS-E |
基因描述: | Homo sapiens aminolevulinate, delta-, synthase 2 (ALAS2), transcript variant 1, mRNA. |
种属: | Human |
CDS区长度: | 1764 |
翻译后氨基酸长度: | 587 |
Transcript Variant: | This variant (1) represents the longest transcript and encodes the longest isoform (a). |
The product of this gene specifies an erythroid-specific mitochondrially located enzyme. The encoded protein catalyzes the first step in the heme biosynthetic pathway. Defects in this gene cause X-linked pyridoxine-responsive sideroblastic anemia. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
ATGGTGACTGCAGCCATGCTGCTACAGTGCTGCCCAGTGCTTGCCCGGGGCCCCACAAGCCTCCTAGGCA
AGGTGGTTAAGACTCACCAGTTCCTGTTTGGTATTGGACGCTGTCCCATCCTGGCTACCCAAGGACCAAA
CTGTTCTCAAATCCACCTTAAGGCAACAAAGGCTGGAGGAGATTCTCCATCTTGGGCGAAGGGCCACTGT
CCCTTCATGCTGTCGGAACTCCAGGATGGGAAGAGCAAGATTGTGCAGAAGGCAGCCCCAGAAGTCCAGG
AAGATGTGAAGGCTTTCAAGACAGATCTGCCTAGCTCCCTGGTCTCAGTCAGCCTAAGGAAGCCATTTTC
CGGTCCCCAGGAGCAGGAGCAGATCTCTGGGAAGGTCACACACCTGATTCAGAACAATATGCCTGGAAAC
TATGTCTTCAGTTATGACCAGTTTTTCAGGGACAAGATCATGGAGAAGAAACAGGATCACACCTACCGTG
TGTTCAAGACTGTGAACCGCTGGGCTGATGCATATCCCTTTGCCCAACATTTCTCTGAGGCATCTGTGGC
CTCAAAGGATGTGTCCGTCTGGTGTAGTAATGATTACCTGGGCATGAGCCGACACCCTCAGGTCTTGCAA
GCCACACAGGAGACCCTGCAGCGTCATGGTGCTGGAGCTGGTGGCACCCGCAACATCTCAGGCACCAGTA
AGTTTCATGTGGAGCTTGAGCAGGAGCTGGCTGAGCTGCACCAGAAGGACTCAGCCCTGCTCTTCTCCTC
CTGCTTTGTTGCCAATGACTCTACTCTCTTCACCTTGGCCAAGATCCTGCCAGGGTGCGAGATTTACTCA
GACGCAGGCAACCATGCTTCCATGATCCAAGGTATCCGTAACAGTGGAGCAGCCAAGTTTGTCTTCAGGC
ACAATGACCCTGACCACCTAAAGAAACTTCTAGAGAAGTCTAACCCTAAGATACCCAAAATTGTGGCCTT
TGAGACTGTCCACTCCATGGATGGTGCCATCTGTCCCCTCGAGGAGTTGTGTGATGTGTCCCACCAGTAT
GGGGCCCTGACCTTCGTGGATGAGGTCCATGCTGTAGGACTGTATGGGTCCCGGGGCGCTGGGATTGGGG
AGCGTGATGGAATTATGCATAAGATTGACATCATCTCTGGAACTCTTGGCAAGGCCTTTGGCTGTGTGGG
CGGCTACATTGCCAGCACCCGTGACTTGGTGGACATGGTGCGCTCCTATGCTGCAGGCTTCATCTTTACC
ACTTCTCTGCCCCCCATGGTGCTCTCTGGAGCTCTAGAATCTGTGCGGCTGCTCAAGGGAGAGGAGGGCC
AAGCCCTGAGGCGAGCCCACCAGCGCAATGTCAAGCACATGCGCCAGCTACTCATGGACAGGGGCCTTCC
TGTCATCCCCTGCCCCAGCCACATCATCCCCATCCGGGTGGGCAATGCAGCACTCAACAGCAAGCTCTGT
GATCTCCTGCTCTCCAAGCATGGCATCTATGTGCAGGCCATCAACTACCCAACTGTCCCCCGGGGTGAAG
AGCTCCTGCGCTTGGCACCCTCCCCCCACCACAGCCCTCAGATGATGGAAGATTTTGTGGAGAAGCTGCT
GCTGGCTTGGACTGCGGTGGGGCTGCCCCTCCAGGATGTGTCTGTGGCTGCCTGCAATTTCTGTCGCCGT
CCTGTACACTTTGAGCTCATGAGTGAGTGGGAACGTTCCTACTTCGGGAACATGGGGCCCCAGTATGTCA
CCACCTATGCCTGA