| Common Name: | ATP7A |
| HGNC Symbol: | ATP7A |
| HGNC Description: | ATPase, Cu++ transporting, alpha polypeptide (Menkes syndrome) |
| HGNC ID: | 869 |
| Chromosome: | Chr.X(+): 77052876-77192208 |
| Location: | Xq13.2-q13.3 |
| OMIM: | 300011 |
| OMIM Phenotype: | Menkes disease, mild; Occipital horn syndrome; Cutis laxa, neonatal; Menkes disease; Menkes disease, copper-replacement responsive |
| Accessions: | L06133 |
| Nucleotide RefSeq: | NM_000052 |
| Protein RefSeq: | NP_000043 |
| Entrez: | 538 |
| Isoforms: | 1 |
| Evidence: | None |
| Tissues: | None |
| Type: | protein coding |
| Sets: | II |
| PharmGKB ID: | PA72 |
| HPRD ID: | 02054 |
| Substrates: | None |
| Trivial Names: | MK, MNK, FLJ17790 |
| Transcripts: | NM_000052 [Chr.X(+): 77052850-77192548] |
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.