MCM6 - minichromosome maintenance complex component 6 Gene

Homo sapiens

Also known as Mis5; P105MCM; MCG40308

Gene ID: 4175 | Gene type: protein coding

About MCM6

Cytogenetic location: 2q21.3 Genomic coordinates (GRCh38): 2:135,839,626-135,876,443 (from NCBI)

This gene has 3 transcripts (splice variants), 208 orthologues, 8 paralogues and is associated with 2 phenotypes. Broad expression in lymph node (RPKM 19.9), bone marrow (RPKM 13.7) and 24 other tissues.

Summary

The protein encoded by this gene is one of the highly conserved mini-chromosome maintenance proteins (MCM) that are essential for the initiation of eukaryotic genome replication. The hexameric protein complex formed by the MCM proteins is a key component of the pre-replication complex (pre_RC) and may be involved in the formation of replication forks and in the recruitment of other DNA replication related proteins. The MCM complex consisting of this protein and MCM2, 4 and 7 proteins possesses DNA helicase activity, and may act as a DNA unwinding Enzyme. The phosphorylation of the complex by CDC2 kinase reduces the helicase activity, suggesting a role in the regulation of DNA replication. Single nucleotide polymorphisms in the intron regions of this gene are associated with differential transcriptional activation of the promoter of the neighboring lactase gene and, thereby, influence lactose intolerance in early adulthood. [provided by RefSeq, May 2012]

MCM6 Products(1)

mRNA	Protein	Name
NM_005915.6	NP_005906.2	DNA replication licensing factor MCM6

MCM6 Protein Structure

MCM_N

MCM

0
200
400
600
821 a.a.

Protein Preferred Names

Protein Names

DNA replication licensing factor MCM6

MCM6 minichromosome maintenance deficient 6 (MIS5 homolog, S. pombe)

Related Diseases

Diseases

Alias

Lactose Intolerance, Adult Type

Hypolactasia, Adult Type	Adult Lactase Deficiency
Disaccharide Intolerance Iii	Lactase Persistence/Nonpersistence
Lactose Intolerance Adult Type

Lactose Intolerance

Lactose Malabsorption	Lm - Lactose Malabsorption
Alactasia	Dairy Product Intolerance
Hypolactasia	Milk Sugar Intolerance
Cow Milk Enteropathy	Intolerance Or Malabsorption Of Lactose
Lm - [Lactose Malabsorption]	Milk Intolerance

Craniopharyngioma

Neoplasm Of Rathke'S Pouch	Adamantinomatous Tumor
Craniopharyngeal Duct Tumor	Dysodontogenic Epithelial Tumor
Rathke'S Pouch Tumor

Lactase Deficiency, Congenital

Congenital Lactase Deficiency	Disaccharide Intolerance Ii
Congenital Alactasia	Congenital Alactasia Syndrome
Congenital Lactose Intolerance	Congenital Lactose Malabsorption
Hereditary Alactasia	Alactasia, Congenital
Cld	COLACD
Disaccharide Intolerance Type 2	Cld - [Congenital Lactase Deficiency]
Disaccharide Intolerance 2	Lactose Intolerance Of Newborn
Hereditary Lactase Deficiency

Endometrial Mixed Adenocarcinoma

Filippi Syndrome

Scott Craniodigital Syndrome With Mental Retardation	Type 1 Syndactyly-Microcephaly-Intellectual Disability Syndrome
FLPIS	Scott Bryant Graham Syndrome
Craniodigital-Intellectual Disability Syndrome	Scott Craniodigital Syndrome
Scott-Bryant-Graham Syndrome	Syndactyly, Type I, With Microcephaly And Mental Retardation
Syndactyly Type I With Microcephaly And Intellectual Disability	Unusual Facial Appearance, Microcephaly, Growth And Intellectual Disability And Syndactyly
Craniodigital Syndrome With Intellectual Disability	Craniodigital Syndrome-Intellectual Disability Syndrome
Craniodigital Syndrome-Intellectual Disability, Scott Type	Intellectual Disability-Craniodigital Syndrome

Fanconi Anemia, Complementation Group A

Fanconi Anemia	Fanconi Pancytopenia
Fanconi Anemia Complementation Group A	FANCA
Fa	Fanconi Panmyelopathy
Fanconi'S Anemia	Fanconi Anaemia
Fanconi'S Anaemia	Fanconi Hypoplastic Anemia
Estren-Dameshek Variant Of Fanconi Anemia	Estren-Dameshek Variant Of Fanconi Pancytopenia
Fanconi Anemia Estren-Dameshek Variant	Fanconis Anemia

Meier-Gorlin Syndrome 1

Meier-Gorlin Syndrome	Ear, Patella, Short Stature Syndrome
Microtia, Absent Patellae, Micrognathia Syndrome	MGORS1
Eps	Ear-Patella-Short Stature Syndrome
Ear Patella Short Stature Syndrome	Microtia Absent Patellae Micrognathia Syndrome
Meier-Gorlin Syndrome, Type 1

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS08239	MCM6 Human Pre-designed siRNA Set A		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	MCM6	VGNC	VGNC:68217
Rattus norvegicus	MCM6	RGD	RGD:61967
Bos taurus	MCM6	VGNC	VGNC:31312
Mus musculus	MCM6	MGD	MGI:1298227
Canis familiaris	MCM6	VGNC	VGNC:43086
Macaca mulatta	MCM6	VGNC	VGNC:74685