9.B.317.1.2
TMEM126A of 195 aas and 4 TMSs. This protein shows distant similarity to members of the mitochondrial carrier (MC) Family (2.A.29), but homology has not been established. Pathogenic splice variants have been detected that give rise to non-syndromic autosomal recessive optic atrophy (Kloth et al. 2019).
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| Accession Number: | Q9H061 |
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| Protein Name: | Transmembrane protein 126A |
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| Length: | 195 |
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| Molecular Weight: | 21527.00 |
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| Species: | Homo sapiens (Human) [9606] |
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| Number of TMSs: | 4 |
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| Location1 / Topology2 / Orientation3: |
Mitochondrion inner membrane1 / Multi-pass membrane protein2 |
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| Substrate |
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1: MENHKSNNKE NITIVDISRK INQLPEAERN LLENGSVYVG LNAALCGLIA NSLFRRILNV
61: TKARIAAGLP MAGIPFLTTD LTYRCFVSFP LNTGDLDCET CTITRSGLTG LVIGGLYPVF
121: LAIPVNGGLA ARYQSALLPH KGNILSYWIR TSKPVFRKML FPILLQTMFS AYLGSEQYKL
181: LIKALQLSEP GKEIH