Gene: [0Xq13/ATP7A] ATPase, Cu++ transporting, alpha polypeptide (Menkes syndrome); Menkes syndrome (kinky or steely hair disease; MIM:309400);

FUN	The ATP7A gene product may participate in the import of copper from cells, whereas the ATP7B gene product has a role in the export of copper (GEM:13q143/ATP7B)."
REF	PAT,MEB,PHE "Barnard &: Dev Med Child Neurol, 20, 586-597, 1978 PAT,MEB,PHE "Bucknall &: Pediatrics, 52, 653-657, 1973 PAT,MEB,PHE "Camakaris &: Biochem Genet, 18, 117-131, 1980 CLO,SEQ,PAT "Chelly J &: Nature Genet, 3, 14-19, 1993 MUT,PAT "Das S &: AJHG, 56, 570-576, 1995 CLO,SEQ,STR "Dierick HA &: Genomics, 28, 462-469, 1995 LOC,LIN,CYG,POL "Friedrich &: Clin Genet, 23, 230, 1983 PAT,MEB,PHE "Goka &: PNAS, 73, 604-606, 1976 PAT,MEB,PHE "Haas &: Neurology, 31, 852-859, 1981 LOC,LIN,CYG,POL "Horn N &: Ann Hum Genet, 48, 161-172, 1984 PND "Horn N: J Inherit Metab Dis, 6, (Suppl 1), 59-62, 1983 PND "Horn N: Prenatal Diag, 1, 107-120, 1981 PND "Horn N: Lancet, 1, 1156-1158, 1976 MUT,PAT "Kaler SG &: Nature Genet, 8, 195-202, 1994 LOC,LIN,CYG,POL "Kapur S &: Am J Med Genet, 26, 503-510, 1987 PAT,MEB,PHE "Leone &: Cell, 40, 301-309, 1985 HIS,PHE,FOG "Menkes JH: Pediatrics, 50, 181-182, 1972 HIS,PHE,FOG "Menkes JH &: Pediatrics, 29, 764-779, 1962 CLO,SEQ,PAT "Mercer JFB &: Nature Genet, 3, 20-25, 1993 PAT,MEB,PHE "Moore, Howell: Clin Genet, 28, 532-540, 1985 PAT,MEB,PHE "Peltonen L &: Biochemistry, 22, 6156-6163, 1983 PND "Tonnesen &: Lancet, 1, 1038-1039, 1985 CLO,SEQ,STR "Tumer Z &: Genomics, 26, 437-442, 1995 CLO,SEQ,PAT "Vulpe C &: Nature Genet, 3, 7-13, 1993 LOC,LIN,CYG,POL "Wieacker P &: Hum Genet, 64, 139-142, 1983 LOC,LIN,CYG,POL "Wienker &: Hum Genet, 65, 72-73, 1983 HIS,PHE,FOG "Yoshida &: Tohoku J Med Sci, 83, 261-269, 1964
SWI	SWISSPROT: Q04656
KEY	mtbd, neu, derm, ion
CLA	coding, basic
LOC	0X q13.2-.3
MIM	MIM: 300011
EZN	ENZYME: 3.6.1.36