| Transporter Information: | |
| Name: | ATP-binding cassette, sub-family D (ALD), member 2 |
|---|---|
| Symbol: | ABCD2 |
| TC: | 3.A.1.203.3 |
| Locations: | 12q11-q12 |
| Aliases: | ALDR, ALDRP |
| GenBank: | U28150 |
| Swiss-Prot: | Q9UBJ2 |
| Accession Number: | NM_005164 |
| GDB | GDB:7171009 |
| LocusLink | 225 |
| OMIM | 601081 |
| PubMed (8577752): | Lombard-Platet G, Savary S, Sarde CO, Mandel JL, Chimini G. A close relative of the adrenoleukodystrophy (ALD) gene codes for a peroxisomalprotein with a specific expression pattern.Proc Natl Acad Sci U S A. 1996 Feb 6;93(3):1265-9. PMID: 8577752 [PubMed - indexed for MEDLINE] Adrenoleukodystrophy (ALD), a severe demyelinating disease, is caused by mutations in a gene coding for a peroxisomal membrane protein (ALDP), which belongs to the superfamily of ATP binding cassette (ABC) transporters and has the structure of a half transporter. ALDP showed 38% sequence identity with another peroxisomal membrane protein, PMP70, up to now its closest homologue. We describe here the cloning and characterization of a mouse ALD-related gene (ALDR), which codes for a protein with 66% identity with ALDP and shares the same half transporter structure. The ALDR protein was overexpressed in COS cells and was found to be associated with the peroxisomes. The ALD and ALDR genes show overlapping but clearly distinct expression patterns in mouse and may thus play similar but nonequivalent roles. The ALDR gene, which appears highly conserved in man, is a candidate for being a modifier gene that could account for some of the extreme phenotypic variability of ALD. The ALDR gene is also a candidate for being implicated in one of the complementation groups of Zellweger syndrome, a genetically heterogeneous disorder of peroxisome biogenesis, rare cases of which were found to be associated with mutations in the PMP70 (PXMP1) gene. |
>sp|Q9UBJ2|ABCD2_HUMAN ATP-binding cassette sub-family D member 2 OS=Homo sapiens GN=ABCD2 PE=1 SV=1 MTHMLNAAADRVKWTRSSAAKRAACLVAAAYALKTLYPIIGKRLKQSGHGKKKAAAYPAAENTEILHCTETICEKPSPGV NADFFKQLLELRKILFPKLVTTETGWLCLHSVALISRTFLSIYVAGLDGKIVKSIVEKKPRTFIIKLIKWLMIAIPATFV NSAIRYLECKLALAFRTRLVDHAYETYFTNQTYYKVINMDGRLANPDQSLTEDIMMFSQSVAHLYSNLTKPILDVMLTSY TLIQTATSRGASPIGPTLLAGLVVYATAKVLKACSPKFGKLVAEEAHRKGYLRYVHSRIIANVEEIAFYRGHKVEMKQLQ KSYKALADQMNLILSKRLWYIMIEQFLMKYVWSSSGLIMVAIPIITATGFADGEDGQKQVMVSERTEAFTTARNLLASGA DAIERIMSSYKEVTELAGYTARVYNMFWVFDEVKRGIYKRTAVIQESESHSKNGAKVELPLSDTLAIKGKVIDVDHGIIC ENVPIITPAGEVVASRLNFKVEEGMHLLITGPNGCGKSSLFRILSGLWPVYEGVLYKPPPQHMFYIPQRPYMSLGSLRDQ VIYPDSVDDMHDKGYTDQDLERILHNVHLYHIVQREGGWDAVMDWKDVLSGGEKQRMGMARMFYHKPKYALLDECTSAVS IDVEGKIFQAAKGAGISLLSITHRPSLWKYHTHLLQFDGEGGWRFEQLDTAIRLTLSEEKQKLESQLAGIPKMQQRLNEL CKILGEDSVLKTIKNEDETS | |