Gene: [02q3/COL4A4] collagen, type IV, alpha 4; Alport syndrome, autosomal recessive, type II (MIM:203780); hematuria, benign familial (141200);
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." |
REF | FUN,PEP,MOP "Butkowski
RJ &: JBC, 262, 7874-7877, 1987 CLO,SEQ "Gunwar S &: JBC, 265, 5466-5469, 1990 CLO,SEQ,GEN,LOC "Kamagata Y &: JBC, 267, 23753-23758, 1992 CLO,SEQ,STR,GEN "Leinonen A &: JBC, 269, 26172-26177, 1994 MUT "Lemmink HH &: J Clin Invest, 98, 1114-1118, 1996 CLO,SEQ "Mariyama M &: Genomics, 13, 809-813, 1992 MUT "Mochizuki T &: Nature Genet, 8, 77-81, 1994 FUN,PEP,MOP "Saus J &: JBC, 263, 13374-13380, 1988 |
SWI | SWISSPROT: P53420 |
KEY | exce |
CLA | coding, basic |
LOC | 02 q35-37.1 |
MIM | MIM: 120131 |
