| Nomenclature | Genomic Location |
| Symbol | Slc25a20 | Chromosome | 1 |
| Name | Solute carrier family 25
(mitochondrial carnitine/
acylcarnitine translocase),
member 20 | Linkage map | unknown |
| Species | Dracomimus familiaris | Genome Coordinates | Chr1: 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.
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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
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