| Transporter Information: | |
| Name: | ATP-binding cassette, sub-family D (ALD), member 3 |
|---|---|
| Symbol: | ABCD3 |
| TC: | 3.A.1.203.1 |
| Locations: | 1p22-p21 |
| Aliases: | PMP70 |
| GenBank: | M81182 |
| Swiss-Prot: | P28288 |
| Accession Number: | NM_002858 |
| GDB | GDB:131485 |
| LocusLink | 5825 |
| OMIM | 170995 |
| PubMed (1301993): | Gartner J, Moser H, Valle D. Mutations in the 70K peroxisomal membrane protein gene in Zellweger syndrome.Nat Genet. 1992 Apr;1(1):16-23. PMID: 1301993 [PubMed - indexed for MEDLINE] The peroxisomal membrane protein, with a relative molecular mass of 70,000 (M(r) 70K) (PMP70), is an important component of peroxisomal membranes and an ATP-binding cassette protein. To investigate its possible involvement in Zellweger syndrome (ZS), an inborn error of peroxisome assembly, we cloned and sequenced cDNAs for human PMP70 and mapped the gene to chromosome 1. Amongst 32 probands with ZS or related disorders, we found two mutant PMP70 alleles in single ZS probands from the same complementation group. One allele has a donor splice site mutation and the second a missense mutation. Our results suggest that PMP70 plays an important role in peroxisome biogenesis and that mutations in PMP70 may be responsible for a subset of ZS patients. |
| PubMed (8449508): | Gartner J, Kearns W, Rosenberg C, Pearson P, Copeland NG, Gilbert DJ,Jenkins NA, Valle D. Localization of the 70-kDa peroxisomal membrane protein to human 1p21-p22 andmouse 3.Genomics. 1993 Feb;15(2):412-4. PMID: 8449508 [PubMed - indexed for MEDLINE] The 70-kDa peroxisomal membrane protein (PXMP1) is a member of the ATP-binding cassette transporter family. In humans, mutations in this gene may be responsible for a subset of patients with Zellweger syndrome, a lethal inborn error of peroxisome assembly. The PXMP1 gene was assigned to human chromosome 1p21-p22 by in situ hybridization and its murine homologue (Pxmp-1) to chromosome 3 by interspecific backcross analysis. |
>sp|P28288|ABD3_HUMAN ATP-binding cassette, sub-family D, member 3 (70 kDa peroxisomal membrane protein) (PMP70) - Homo sapiens (Human).
MAAFSKYLTARNSSLAGAAFLLLCLLHKRRRALGLHGKKSGKPPLQNNEKEGKKERAVVDKVFFSRLIQILKIMVPRTFC
KETGYLVLIAVMLVSRTYCDVWMIQNGTLIESGIIGRSRKDFKRYLLNFIAAMPLISLVNNFLKYGLNELKLCFRVRLTK
YLYEEYLQAFTYYKMGNLDNRIANPDQLLTQDVEKFCNSVVDLYSNLSKPFLDIVLYIFKLTSAIGAQGPASMMAYLVVS
GLFLTRLRRPIGKMTITEQKYEGEYRYVNSRLITNSEEIAFYNGNKREKQTVHSVFRKLVEHLHNFILFRFSMGFIDSII
AKYLATVVGYLVVSRPFLDLSHPRHLKSTHSELLEDYYQSGRMLLRMSQALGRIVLAGREMTRLAGFTARITELMQVLKD
LNHGKYERTMVSQQEKGIEGVQVIPLIPGAGEIIIADNIIKFDHVPLATPNGDVLIRDLNFEVRSGANVLICGPNGCGKS
SLFRVLGELWPLFGGRLTKPERGKLFYVPQRPYMTLGTLRDQVIYPDGREDQKRKGISDLVLKEYLDNVQLGHILEREGG
WDSVQDWMDVLSGGEKQRMAMARLFYHKPQFAILDECTSAVSVDVEGYIYSHCRKVGITLFTVSHRKSLWKHHEYYLHMD
GRGNYEFKQITEDTVEFGS
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