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Gene Model: Slc25a20

NomenclatureGenomic Location
SymbolSlc25a20Chromosome1
NameSolute carrier family 25
(mitochondrial carnitine/
acylcarnitine translocase),
member 20
Linkage mapunknown
SpeciesDracomimus familiarisGenome CoordinatesChr1: 35

Molecular Function

Mediates the transport of acylcarnitines of different length across the mitochondrial inner membrane from the cytosol to the mitochondrial matrix for their oxidation by the mitochondrial fatty acid-oxidation pathway.

Molecular Function Terms:

transporter activity
   substrate-specific transporter activity
      substrate-specific transmembrane transporter activity

Human Disease Association

Defects in SLC25A20 are the cause of carnitine-acylcarnitine translocase deficiency (CACT deficiency) [MIM:212138]. It is an autosomal recessive deficiency in mitochondrial oxidation of fatty acids. It is usually lethal within a few hours or days after birth. Symptoms characterizing its normally severe clinical phenotype include fatty hepatomegaly with abnormal liver function, cardiomyopathy, muscle weakness and episodes of life-threatening coma, which eventually lead to death.

Predicted Transcript
     1 ATGGCGGAGAAAGCTAAGCCCTCCCAGGCGCCCGTCAGCCCCGTGAAGAACTTCTTCGCC
    61 GGGGGCTTCGGGGGTGTCTGCTTGGTCTTTGTGGGGCACCCGCTGGACACCATCAAGGTT
   121 AGGCTACAAACTCAACCGGCAGCTTTGCCAGGACAGCCTCCCCTCTACTCTGGAACCTTC
   181 GATTGTTTTAAGAAGACTCTTGTGAAAGAGGGAGTCCGTGGCTTGTACAAGGGGATGGCA
   241 GCTCCCATTGTTGGAGTGACCCCCATGTTTGCTGTCTGTTTCTTTGGATTTGGCTTGGGC
   301 AAGAAACTCCAGCAGAAGACCCCAGATGACATCTTGACATATCCCCAGCTCTTTGCAGCA
   361 GGCATGTTATCTGGAGTATTCACCACTGCAATCATGGCTCCAGGAGAAAGGATCAAGTGC
   421 CTTCTTCAGATCCAAGCAGCCTCAGGTGAAATTAAATATGGGGGTCCAGTGGACTGTGCC
   481 AAGCAGATCTATCGTGAGGCTGGCATTCGAGGTGTTTACAAAGGGACGGTCCTCACCCTC
   541 ATGAGAGATGTTCCAGCCAGTGGGATGTACTTCATGACCTATGAATGGCTGAAAAGTGTT
   601 TTAACTCCTGAAGGGCAGAGTGTCAGCGACCTTAGTGTCCCCAGGATTCTCTTTGCTGGT
   661 GGCATGGCAGGAATATTCAACTGGGCTGTAGGCATTCCTCCAGATGTGTTGAAATCTCGC
   721 TTCCAGACAGCTCCTCCAGGAAAGTATCCCAATGGCTTCAGAGATGTTTTGCGAGAGCTG
   781 ATCCGAGAGGAGGGAGTGATGTCTCTGTACAAGGGGTTCACTGCTGTGATGATCAGAGCC
   841 TTTCCTGCCAATGCAGCCTGTTTCCTTGGTTTCGAATTCGCCATGAAATTCTTGAATTGG
   901 CTTGCACCAAGTCACTGA

Predicted Protein Product
MAEKAKPSQAPVSPVKNFFAGGFGGVCLVFVGHPLDTIKVRLQTQPAALPGQPPLYSGTF
DCFKKTLVKEGVRGLYKGMAAPIVGVTPMFAVCFFGFGLGKKLQQKTPDDILTYPQLFAA
GMLSGVFTTAIMAPGERIKCLLQIQAASGEIKYGGPVDCAKQIYREAGIRGVYKGTVLTL
MRDVPASGMYFMTYEWLKSVLTPEGQSVSDLSVPRILFAGGMAGIFNWAVGIPPDVLKSR
FQTAPPGKYPNGFRDVLRELIREEGVMSLYKGFTAVMIRAFPANAACFLGFEFAMKFLNW
LAPSH
Protein Alignment to Mouse
sp|Q9Z2Z6|MCAT_MOUSE Mitochondrial carnitine/acylcarnitine carrier protein
            OS=Mus musculus GN=Slc25a20 PE=1 SV=1
      MGI:1928738 Slc25a20 solute carrier family 25 (mitochondrial carnitine/acylcarnitine translocase), member 20 (Chr 9)
        Length = 301

 Score = 1268 (451.4 bits), Expect = 6.3e-130, P = 6.3e-130
 Identities = 238/304 (78%), Positives = 263/304 (86%)

Query:     1 MAEKAKPSQAPVSPVKNXXXXXXXXXXXXXXXHPLDTIKVRLQTQPAALPGQPPLYSGTF 60
             MA++ KP    +SP KN               HPLDT+KVRLQTQP +L GQPP+YSGT 
Sbjct:     1 MADEPKP----ISPFKNLLAGGFGGMCLVFVGHPLDTVKVRLQTQPPSLSGQPPMYSGTL 56

Query:    61 DCFKKTLVKEGVRGLYKGMAAPIVGVTPMFAVCFFGFGLGKKLQQKTPDDILTYPQLFAA 120
             DCF+KTL++EG+ GLY+GMAAPI+GVTPMFAVCFFGFGLGKKLQQK+P+D L+YPQLF A
Sbjct:    57 DCFRKTLMREGITGLYRGMAAPIIGVTPMFAVCFFGFGLGKKLQQKSPEDELSYPQLFTA 116

Query:   121 GMLSGVFTTAIMAPGERIKCLLQIQAASGEIKYGGPVDCAKQIYREAGIRGVYKGTVLTL 180
             GMLSGVFTT IM PGERIKCLLQIQA+SGE KY G +DCAK++Y+E GIRG YKGTVLTL
Sbjct:   117 GMLSGVFTTGIMTPGERIKCLLQIQASSGENKYSGTLDCAKKLYQEFGIRGFYKGTVLTL 176

Query:   181 MRDVPASGMYFMTYEWLKSVLTPEGQSVSDLSVPRILFAGGMAGIFNWAVGIPPDVLKSR 240
             MRDVPASGMYFMTYEWLK++ TPEG+SVSDLSVPRIL AGG AGIFNWAV IPPDVLKSR
Sbjct:   177 MRDVPASGMYFMTYEWLKNLFTPEGKSVSDLSVPRILVAGGFAGIFNWAVAIPPDVLKSR 236

Query:   241 FQTAPPGKYPNGFRDVLRELIREEGVMSLYKGFTAVMIRAFPANAACFLGFEFAMKFLNW 300
             FQTAPPGKYPNGFRDVLRELIREEGV SLYKGF AVMIRAFPANAACFLGFE AMKFLNW
Sbjct:   237 FQTAPPGKYPNGFRDVLRELIREEGVTSLYKGFNAVMIRAFPANAACFLGFEIAMKFLNW 296

Query:   301 LAPS 304
             +AP+
Sbjct:   297 IAPN 300