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Sequence of this protein is as follows: MLLPAPALRR ALLSRPWTGA GLRWKHTSSL KVANEPVLAF TQGSPERDAL QKALKDLKGR MEAIPCVVGD EEVWTSDVQY QVSPFNHGHK VAKFCYADKS LLNKAIEAAL AARKEWDLKP IADRAQIFLK AADMLSGPRR AEILAKTMVG QGKTVIQAEI DAAAELIDFF RFNAKYAVEL EGQQPISVPP STNSTVYRGL EGFVAAISPF NFTAIGGNLA GAPALMGNVV LWKPSDTAML ASYAVYRILR EAGLPPNIIQ FVPADGPLFG DTVTSSEHLC GINFTGSVPT FKHLWKQVAQ NLDRFHTFPR LAGECGGKNF HFVHRSADVE SVVSGTLRSA FEYGGQKCSA CSRLYVPHSL WPQIKGRLLE EHSRIKVGDP AEDFGTFFSA VIDAKSFARI KKWLEHARSS PSLTILAGGK CDDSVGYFVE PCIVESKDPQ EPIMKEEIFG PVLSVYVYPD DKYKETLQLV DSTTSYGLTG AVFSQDKDVV QEATKVLRNA AGNFYINDKS TGSIVGQQPF GGARASGTND KPGGPHYILR WTSPQVIKET HKPLGDWSYA YMQ
ALDH4A1 belongs to the aldehyde dehydrogenase family of proteins. This enzyme is a mitochondrial matrix NAD-dependent dehydrogenase which catalyzes the second step of the proline degradation pathway, converting pyrroline-5-carboxylate to glutamate. Deficiency of this enzyme is associated with type II hyperprolinemia, an autosomal recessive disorder characterized by accumulation of delta-1-pyrroline-5-carboxylate (P5C) and proline.
仅用于科研。不用于诊断过程。未经明确授权不得转售。
蛋白别名: aldehyde dehydrogenase 4 family, member A1; Aldehyde dehydrogenase family 4 member A1; Delta-1-pyrroline-5-carboxylate dehydrogenase, mitochondrial; L-glutamate gamma-semialdehyde dehydrogenase; mitochondrial delta-1-pyrroline 5-carboxylate dehydrogenase; P5C dehydrogenase; RP11-128M10.1
基因别名: A930035F14Rik; Ahd-1; Ahd1; ALDH4; ALDH4A1; Aldh5a1; E330022C09; P5CD; P5CDH; P5cdhl; P5cdhs; Ssdh1
UniProt ID: (Human) P30038, (Mouse) Q8CHT0
Entrez Gene ID: (Human) 8659, (Mouse) 212647