1. Gene
  2. MCM8 - minichromosome maintenance 8 homologous recombination repair factor Gene

MCM8 - minichromosome maintenance 8 homologous recombination repair factor Gene

Homo sapiens

Also known as POF10; C20orf154; dJ967N21.5

Gene ID: 84515 | Gene type: protein coding

About MCM8

Cytogenetic location: 20p12.3 Genomic coordinates (GRCh38): 20:5,950,652-5,998,977 (from NCBI)

This gene has 5 transcripts (splice variants), 201 orthologues, 8 paralogues and is associated with 2 phenotypes. Broad expression in testis (RPKM 3.9), lymph node (RPKM 1.8) 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 mini-chromosome maintenance proteins is a key component of the pre-replication complex and may be involved in the formation of replication forks and in the recruitment of other DNA replication related proteins. This protein contains the central domain that is conserved among the mini-chromosome maintenance proteins. The encoded protein may interact with other mini-chromosome maintenance proteins and play a role in DNA replication. This gene may be associated with length of reproductive lifespan and menopause. Alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Jul 2013]

MCM8 Products(5)

mRNA Protein Name
NM_001281520.2 NP_001268449.1 DNA helicase MCM8 isoform 1
NM_001281521.2 NP_001268450.1 DNA helicase MCM8 isoform 3
NM_001281522.2 NP_001268451.1 DNA helicase MCM8 isoform 4
NM_032485.6 NP_115874.3 DNA helicase MCM8 isoform 1
NM_182802.3 NP_877954.1 DNA helicase MCM8 isoform 2

MCM8 Protein Structure

MCM_N

MCM_N: MCM N-terminal domain (107 - 223)

MCM

MCM: MCM2/3/5 family (390 - 748)

  • 0
  • 200
  • 400
  • 600
  • 840 a.a.
Protein Preferred Names Protein Names

DNA helicase MCM8

DNA replication licensing factor MCM8

Related Diseases

Diseases Alias
Premature Ovarian Failure 10

POF10

Ovarian Failure, Premature, Type 10

Spermatogenic Failure

Azoospermia

Spgf

Spermatogenic Failure, Susceptibility To

Absent Sperm

Aspermatogenesis

Infertility Due To Azoospermia

Hypospermatogenesis

Azoospermatism

Placental Choriocarcinoma

Choriocarcinoma Of The Placenta

Endometrial Mixed Adenocarcinoma
Amenorrhea

Absence Of Menstruation

Amenia

46 Xx Gonadal Dysgenesis

Ovarian Dysgenesis

Gonadal Dysgenesis, 46,Xx

Dysgenesis, Ovarian

Premature Menopause

Primary Ovarian Insufficiency

Premature Ovarian Failure

Hypergonadotropic Hypogonadism

Premature Ovarian Insufficiency

Menopause - Premature

Menopause Praecox

Menopause Premature

Menopause, Premature

Female Hypergonadotropic Hypogonadism

Hypergonadotrophic Ovarian Failure

Primary Female Hypogonadism

Pof - [Premature Ovarian Failure]

Ovarian Failure

Ovarian Secretion Suppression

Ovary Hyposecretion

Ovary Secretion Deficiency

Premature Menopause Nos

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

Perrault Syndrome

Gonadal Dysgenesis, Xx Type, With Deafness

Ovarian Dysgenesis With Sensorineural Deafness

Gonadal Dysgenesis, Xx Type

Gonadal Dysgenesis With Auditory Dysfunction, Autosomal Recessive Inheritance

Gonadal Dysgenesis With Sensorineural Deafness, Autosomal Recessive Inheritance

Xx Gonodal Dysgenesis-Deafness Syndrome

Xx Gonodal Dysgenesis-Hearing Loss Syndrome

Gonadal Dysgenesis Xx Type Deafness

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

Orthologs Information

Species Symbol Source ID
Rattus norvegicus MCM8 RGD RGD:1305218
Macaca mulatta MCM8 VGNC VGNC:74516
Canis familiaris MCM8 VGNC VGNC:43088
Bos taurus MCM8 VGNC VGNC:31314
Mus musculus MCM8 MGD MGI:1913884
Felis catus MCM8 VGNC VGNC:81119