Gene: [02p233/POMC] proopiomelanocortin (adrenocorticotropin/beta-lipotropin); lipotropins (alpha-, beta-, gamma-LPH); melanotropins (alpha-, beta-, gamma-MSH); endorphins (alpha, beta, gamma); obesity, adrenal insufficiency, and red hair; [ACTH LPH MSH ]
COM | Zabel-1983 assigned proopiomelanocortin gene to Chr 2p23. Satoh-1997 refined the location to Chr 2p23.3 by fluorescence in situ hybridization." |
GEN | The gene length is 8 kb; the gene contains two large introns (3.7 and 2.9 kb). |
PAT | The MIM indicates (MIM:219090) a new recessive marker, the familial form of Kushing disease (which is referred to as the hypophyseal form). This pathology is characterized by a hyperproduction of endogenous ACTH, in contrast to the adrenal form (MIM:219080), in which ACTH suppression occurs." |
REF | PEP,SEQ,MOP "Benjannet
&: Nature, 285, (5 Jun), 415-416, 1980 PEP,SEQ,MOP "Bennett HPJ &: Biochem J, 133, 11-13, 1973 GEN,SEQ,EXP "Chang AC &: PNAS, 77, N8, 4890-4894, 1980 REV,FUN "Chretien, Seidah: Mol Cell Biochem, 34, N2, 101-127, 1981 PEP,SEQ,MOP "Chretien &: Can J Biochem, 57, 1111-1121, 1979 GEN,SEQ,EXP "Cochet M &: Nature, 297, (27 May), 335-339, 1982 PEP,SEQ,MOP "Crine &: PNAS, 75, 4719-4723, 1978 REV,FUN "Eipper, Mains: Endocrine Rev, 1, 1-27, 1980 POL,MOL "Feder J &: AJHG, 37, N2, 286-294, 1985 POL,MOL "Feder J &: AJHG, 35, 1090-1096, 1983 EXP,MOL,MET,RAT "Fremeau &: Mol Brain Res, 6, 197-201, 1989 PEP,SEQ,MOP "Harris JI: Nature, 184, 167-169, 1959 MUT "Krude H &: Nature Genet, 19, N2, 155-157, 1998 EXP "Lacaze-Masmonteil &: PNAS, 84, N20, 7261-7265, 1987 PEP,SEQ,MOP "Lee &: JBC, 236, 2970-2974, 1961 EXP "Lewis &: PNAS, 83, N15, 5419-5423, 1986 PEP,SEQ,MOP "Li, Chung: Int J Pep Prot Res, 17, 131-142, 1981 PEP,SEQ,MOP "Li &: PNAS, 77, N12, 7214-7217, 1980 PEP,SEQ,MOP "Mains &: PNAS, 74, 3014-3018, 1977 LOC "Owerbach D &: Somat Cell Genet, 7, 359-369, 1981 PEP,SEQ,MOP "Roberts, Herbert: PNAS, 74, 5300-5304, 1977 LOC "Satoh H, Mori S: CCG, 76, N3-4, 221-222, 1997 PEP,SEQ,MOP "Seidah NG &: FEBS Lett, 147, N2, 267-272, 1982 PEP,SEQ,MOP "Seidah NG &: BBRC, 102, N2, 710-716, 1981 GEN,SEQ,EXP "Takahashi H &: NAR, 11, N19, 6847-6858, 1983 GEN,SEQ,EXP "Takahashi H &: FEBS Lett, 135, N1, 97-102, 1981 REV,FUN "Tranchand-Bunel &: Rev Neurol, 143, N6-7, 471-489, 1987 LOC "Zabel BU &: PNAS, 80, 6932-6936, 1983 |
SWI | SWISSPROT: P01189 |
KEY | neu, horm |
CLA | coding, basic |
LOC | 02 p23.3 |
MIM | MIM: 176830 |
SYN | ACTH LPH MSH |
