| Common Name: | ALD |
| HGNC Symbol: | ABCD1 |
| HGNC Description: | ATP-binding cassette, sub-family D (ALD), member 1 |
| HGNC ID: | 61 |
| Chromosome: | Chr.X(+): 152643530-152663375 |
| Location: | Xq28 |
| OMIM: | 300371 |
| OMIM Phenotype: | Adrenoleukodystrophy; Addison disease; Adrenomyeloneuropathy |
| Accessions: | NM_000033 |
| Nucleotide RefSeq: | NM_000033 |
| Protein RefSeq: | NP_000024 |
| Entrez: | 215 |
| Isoforms: | 1 |
| Evidence: | Substrate In Vitro Evidence: Very long chain fatty acids (VLCFA) - Inferred substrate 1. Yeast homolog. Hettema EH and Tabak HF. Biochim Biophys Acta. 2000 Jun 26;1486(1):18-27. 2. SV40T transformation of human skin fibroblasts. Braiterman LT, et al. Mol Genet Metab. 1999 Feb;66(2):91-9. Tissue Distribution Evidence: Lung > Uterus, Testis, Placenta > Adrenal gland, Prostate, Spleen, Heart - TaqMan RT-PCR. Langmann T, et al. Clinical Chemistry. 2003; 49: 230-8. |
| Tissues: | Lung > Uterus, Testis, Placenta > Adrenal gland, Prostate, Spleen, Heart |
| Type: | protein coding |
| Sets: | V |
| PharmGKB ID: | PA24396 |
| HPRD ID: | 02300 |
| Substrates: | Very long chain fatty acids (VLCFA) |
| Trivial Names: | ALD, AMN, ALDP, ABC42 |
| Transcripts: | NM_000033 [Chr.X(+): 152643530-152663375] |
View on UCSC Genome Browser or Ensembl Genome Browser
Transmembrane prediction:
Non-synonymous amino acid changes shown in red, indels (insertions and deletions) in blue, and synonymous changes in green. Exon(s) indicated by black outlines.