Gene: [02q3/COL4A3] collagen, type IV, alpha 3 (Goodpasture antigen); Alport syndrome, autosomal recessive, type I (MIM:203780); Goodpasture syndrome (MIM:233450);
FAG | [1] On the
COL4 genes, see FAM:COL4/00.0. [2] On the multigene family of collagen proteins, see FAM:COLL/00.0. [3] On the group of collagen genes that are mapped to chromosome 2, see GEM:02q3/COL3A1." |
PAT | The data exist that antibodies for a non-collagen region (NC1) of collagen IV alpha 3 peptide are found in patients with Goodpasture syndrome (MIM:233450; an autoimmune disease of lung and kidney with a possible hereditary component; D'Apice-1978; Simonsen-1982; Saus-1988; Butkowski-1989)." |
REF | FUN,PEP,MOP
"Butkowski RJ &: Kidney Int, 35, 1195-1202, 1989 FUN,PEP,MOP "Butkowski RJ &: JBC, 262, 7874-7877, 1987 MOD,MOU,PAT "Cosgrove D &: Genes Dev, 10, 2981-2992, 1996 PAT "D'Apice &: Ann Int Med, 88, 61-62, 1978 MUT "Knebelmann B &: Hum Mol Genet, 4, 675-679, 1995 MUT "Lemmink HH &: Hum Mol Genet, 3, 1269-1273, 1994 MUT "Mochizuki T &: Nature Genet, 8, 77-81, 1994 CLO,SEQ,LOC "Morrison KE &: AJHG, 49, 545-554, 1991 CLO,SEQ,GEN "Quinones S &: JBC, 267, 19780-19784, 1992 FUN,PEP,MOP "Saus J &: JBC, 263, 13374-13380, 1988 PAT "Simonsen &: Acta Med Scand, 212, 425-428, 1982 GEN,EXP "Thorner PS &: JBC, 271, 13821-13828, 1996 CLO,SEQ,LOC "Turner N &: J Clin Invest, 89, 592-601, 1992 |
SWI | SWISSPROT: Q01955 |
KEY | exce |
CLA | coding, basic |
LOC | 02 q36-37 |
MIM | MIM: 120070 |
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