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Immunogen sequence: MWYHRLSHL HSRLQDLLKG GVIYPALPQP NFKSLLPLAV HWHHTASKSL TCAWQQHEDH FELKYANTVM RFDYVWLRDH CRSASCYNSK THQRSLDTAS VDLCIKPKTI RLDETTLFFT WPDGHVTKYD LNWLVKNSYE GQKQKVIQPR ILWNAEIYQQ AQVPSVDCQS FLETNEGLKK FLQNFLLYGI AFVENVPPTQ EHTEKLAERI SLIRETIYGR MWYFTSDFSR GDTAYTKLAL DRHTDTTYFQ EPCGIQVFHC LKHEGTGGRT LLVDGFYAAE QVLQKAPEEF ELLSKVPLKH EYIEDVGECH NHMIGIGPVL NIYPWNKELY LIRLFKEKQN TVNRQWNSSL QCDIPERILT YRHFVSGTSI EHRGSLI (1-376 aa encoded by BC025269)
This gene encodes the protein trimethyllysine dioxygenase which is the first enzyme in the carnitine biosynthesis pathway. Carnitine play an essential role in the transport of activated fatty acids across the inner mitochondrial membrane. The encoded protein converts trimethyllysine into hydroxytrimethyllysine. A pseudogene of this gene is found on chromosome X. Alternate splicing results in multiple transcript variants.
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Protein Aliases: butyrobetaine (gamma), 2-oxoglutarate dioxygenase (gamma-butyrobetaine hydroxylase) 2; butyrobetaine (gamma), 2-oxoglutarate dioxygenase 2 (gamma-butyrobetaine hydroxylase); Epsilon-trimethyllysine 2-oxoglutarate dioxygenase; Epsilon-trimethyllysine hydroxylase; TML dioxygenase; TML hydroxylase; TML-alpha-ketoglutarate dioxygenase; TMLD; Trimethyllysine dioxygenase, mitochondrial
Gene Aliases: AUTSX6; BBOX2; D430017M14Rik; TMLD; TMLH; TMLHE; TMLHED; XAP130
UniProt ID: (Human) Q9NVH6, (Rat) Q91ZW6, (Mouse) Q91ZE0
Entrez Gene ID: (Human) 55217, (Rat) 170898, (Mouse) 192289
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