Major Intrinsic Protein Of Lens Fiber

Alternative Names

  • MIP
  • MP26
  • MIP26
  • LIM1
  • Aquaporin 0
  • AQP0

Associated Diseases

Cataract 15, Multiple Types
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OMIM Number

154050

NCBI Gene ID

4284

Uniprot ID

P30301

Length

7,052 bases

No. of Exons

8

No. of isoforms

1

Protein Name

Lens fiber major intrinsic protein

Molecular Mass

28122 Da

Amino Acid Count

263

Genomic Location

chr12:56,449,502-56,456,553

Gene Map Locus
12q13.3

Description

Major intrinsic protein is a member of the water-transporting aquaporins as well as the original member of the MIP family of channel proteins. The function of the fiber cell membrane protein encoded by this gene is undetermined, yet this protein is speculated to play a role in intracellular communication. The MIP protein is expressed in the ocular lens and is required for correct lens function. This gene has been mapped among aquaporins AQP2, AQP5, and AQP6, in a potential gene cluster at 12q13. [From RefSeq]

Epidemiology in the Arab World

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Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_012064.4:c.530A>GSaudi ArabiaNC_000012.12:g.56453148T>CPathogenicCataract 15, Multiple TypesNG_021397.2:g.21019A>G; NM_012064.4:c.530A>G; NP_036196.1:p.Tyr177Cys
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