MEIKIN: Meiotic Kinetochore Factor

Essential regulator of meiotic chromosome segregation and kinetochore assembly

Gene Information Card

Symbol MEIKIN
Full Name meiotic kinetochore factor
Gene Type protein-coding
Chromosomal Location 5q31.1
NCBI Gene ID 644973 ncbi.nlm.nih.gov/gene/644973
Ensembl ID ENSG00000145675
UniProt ID Q5T9S5
OMIM ID 617425
HGNC ID 33812
Aliases C5orf45, MGC45871, MGC45872

Description

MEIKIN (meiotic kinetochore factor) is a protein-coding gene that encodes a component of the meiotic kinetochore complex. It is specifically expressed in germ cells and plays a critical role in establishing proper kinetochore-microtubule attachments during meiosis I, ensuring accurate chromosome segregation. MEIKIN is essential for the monopolar attachment of sister kinetochores and for the protection of centromeric cohesion during the first meiotic division.

Disease Associations

Disease category Pathophysiological mechanism Genomic evidence
Male infertility with azoospermia Loss-of-function mutations in MEIKIN disrupt meiotic kinetochore assembly, leading to meiotic arrest and impaired spermatogenesis PMID: 31003958
Premature ovarian failure MEIKIN deficiency in oocytes causes meiotic errors and oocyte depletion PMID: 31003958

Expression Profile

Tissue Expression
Tissue nTPM level
Testis 0.0 Not detected
Ovary 0.0 Not detected
Fallopian tube 0.0 Not detected
Cell Line Expression
Cell Line nTPM Notes
Spermatocytes N/A Meiotic-specific expression
Oocytes N/A Meiotic-specific expression
Data source:Human Protein Atlas(proteinatlas.org)

Mutations & Variants

Hotspot Mutations
Variant Type Frequency Functional Description
c.1A>G (p.Met1?) Missense Rare Loss of start codon, likely loss of function
c.325C>T (p.Arg109*) Nonsense Rare Premature stop, loss of function
Mutation functional classification

Loss of Function (LOF)

MEIKIN loss-of-function mutations cause meiotic arrest and infertility in both males and females.

Gain of Function (GOF)

No gain-of-function mutations reported.

Dominant Negative (DN)

No dominant-negative mutations reported.

Pathways

• Meiotic recombination
• Cell cycle - meiosis
• Kinetochore assembly

Protein Summary

MEIKIN is a 251-amino acid protein localized to the kinetochore during meiosis I. It interacts with other kinetochore components such as MIS12 complex and NDC80 complex to establish monopolar attachment of sister kinetochores. MEIKIN is essential for protecting centromeric cohesin from separase cleavage until anaphase II. The protein contains a conserved N-terminal region required for kinetochore localization and a C-terminal region involved in protein-protein interactions.

Related Products

Product name Cat.No. Species Gene ID
MEIKIN Knockout HEK293 Cell Line EDJ-KQ14232 Human 728637 Details Get a Quote
MEIKIN Knockout HeLa Cell Line EDJ-KQ60718 Human 728637 Details Get a Quote
MEIKIN Knockout A-549 Cell Line EDJ-KQ69189 Human 728637 Details Get a Quote
MEIKIN Knockout HCT 116 Cell Line EDJ-KQ77544 Human 728637 Details Get a Quote
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