Gene: [11q233/HMBS] hydroxymethylbilane synthase; porphobilinogen deaminase (uroporphyrinogen-I synthase); porphyria, acute intermittent (AIP, Swedish type; UPS-deficiency);
HET | Several loci responsible for different forms of porphyria are mapped in the human genome. On the classification of hereditary porphyrias, see GEM:01p34/UROD." |
REF | PAT,MUT "Anderson PM
&: J Clin Invest, 68, 1-12, 1981 MUT,POL "Astrin KH, Desnick RJ: Hum Mut, 4, 243-252, 1994 REV,PHE,FOG "Becker DM, Kramer S: Medicine, 56, 411-423, 1977 PAT,MUT "Daimon M &: Hum Genet, 93, 533-537, 1994 PAT,MUT "Daimon M &: Hum Genet, 92, 115-116, 1993a PAT,MUT "Daimon M &: Hum Genet, 92, 549-553, 1993b LOC "de Verneuil H &: Hum Genet, 60, 212-213, 1982 PAT,MUT "Desnick RJ &: J Clin Invest, 76, 865-874, 1985 PAT,MUT "Goldberg A: Brit Med J, 291, 499-500, 1985 PHE,FOG "Goldberg A: Quart J Med, 28, 183-209, 1959 COD,SEQ,EXP "Grandchamp B &: Eur J Biochem, 162, 105-110, 1987 PAT,MUT "Gu XF &: Hum Genet, 91, 128-130, 1993 PAT,MUT "Gu XF &: AJHG, 51, 660-665, 1992 POL,MUT "Hamabe J &: NAR, 19, 4573, 1991 POL,MUT "James MR &: CCG, 58, 1964, 1991 POL,MOL,LIN "Llewellyn DH &: Lancet, 2, 706-708, 1987a POL,MOL,LIN "Llewellyn DH &: NAR, 15, 1349, 1987b PAT,MUT "Lundin G &: Hum Genet, 93, 59-62, 1994 LOC "Meisler MH &: CCG, 31, 124-128, 1981 PAT,MUT "Meyer &: New Engl J Med, 286, 1277-1282, 1972 PAT,MUT "Mgone CS &: Hum Genet, 90, 12-16, 1992 PAT,MUT "Mustajoki P, Desnick RJ: Brit Med J, 291, 505-509, 1985 PRO,LOC "Namba H &: CCG, 57, 105-108, 1991 CLO,SEQ,MOP "Raich N &: NAR, 14, 5955-5968, 1986 PAT,MUT "Richard CW, 3d &: Genomics, 17, 1-5, 1993 PAT,MUT "Sassa S &: J Exp Med, 142, 722-731, 1975 PAT,MUT "Schreiber WE &: Hum Genet, 93, 552-556, 1994 PAT,MUT "Smith MW &: Genomics, 17, 699-725, 1993 PHE,FOG "Stein JA, Tschudy DP: Medicine, 49, 1-16, 1970 PHE,FOG "Tishler PV &: Am J Psychiat, 142, N12, 1430-1436, 1985 PAT,MUT "Tunnacliffe A &: Genomics, 17, 744-747, 1993 MAF,LIN "Tunnacliffe A &: Genomics, 8, 447-453, 1990 PAT,MUT "Verma A &: PNAS, 84, N8, 2256-2260, 1987 PHE,FOG "Waldenstrom J: Acta Genet Statist Med, 6, 122-131, 1956 LOC "Wang A-L &: PNAS, 78, N9, 5734-5738, 1981 PAT,MUT "Yoo HW &: Genomics, 15, 21-29, 1993 |
SWI | SWISSPROT: P08397 |
KEY | neu, pigm, mtbd |
CLA | coding, basic |
LOC | 11 q23.3 |
MIM | MIM: 176000 |
EZN | ENZYME: 4.3.1.8 |
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