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MSH6

mutS homolog 6 (E. coli)

On chromosome: 2p16
Known also as: GTBP; HSAP; HNPCC5;

NCBI Gene ID:	2956
NCBI Ensembl Id:	ENSG00000116062
MIM Id: (from NCBI OMIM database)	600678
Species:	Homo sapiens

This gene encodes a protein similar to the MutS protein. In E. coli, the MutS protein helps in the recognition of mismatched nucleotides, prior to their repair. A highly conserved region of approximately 150 aa, called the Walker-A adenine nucleotide binding motif, exists in MutS homologs. The encoded protein of this gene combines with MSH2 to form a mismatch recognition complex that functions as a bidirectional molecular switch that exchanges ADP and ATP as DNA mismatches are bound and dissociated. Mutations in this gene have been identified in individuals with hereditary nonpolyposis colon cancer (HNPCC) and endometrial cancer. [provided by RefSeq]

Gene sequence:

[Download sequence]

Proteins coded by this gene:

MSH6 (Homo sapiens)

Diseases related to this gene:

References:

Authors	Title	Journal
Plotz G, Raedle J, Brieger A, Trojan J, Zeuzem S	hMutSalpha forms an ATP-dependent complex with hMutLalpha and hMutLbeta on DNA.	Nucleic Acids Res Jan. 1, 2002
Martik D, Baitinger C, Modrich P	Differential specificities and simultaneous occupancy of human MutSalpha nucleotide binding sites.	J Biol Chem July 2, 2004
Plotz G, Piiper A, Wormek M, Zeuzem S, Raedle J	Analysis of the human MutLalpha.MutSalpha complex.	Biochem Biophys Res Commun Jan. 17, 2006

Last modification of this entry: Oct. 6, 2010.

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