Modulator of VRAC Current 1

Alternative Names

  • MLC1
  • KIAA0027
Back to search Result
OMIM Number

605908

NCBI Gene ID

23209

Uniprot ID

Q15049

Length

26,539 bases

No. of Exons

15

No. of isoforms

2

Protein Name

Membrane protein MLC1

Molecular Mass

41141 Da

Amino Acid Count

377

Genomic Location

chr22:50,059,391-50,085,929

Gene Map Locus
22q13.33

Description

The MLC1 gene is actively transcribed within the CNS, especially in the astroglial cells. The exact function of the pritein product is unknown. But it is hypothesized to play a function in transporting molecules across the blood-brain barrier.  

Mutations in the MLC1 gene are known to result in a form of Megalencephalic Leukoencephalopathy with Subcortical Cysts

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_015166.3:c.263G>TLebanonchr22:50083089Likely PathogenicMegalencephalic Leukoencephalopathy with Subcortical Cysts 1NG_009162.1:g.7842G>T ; NM_015166.3:c.263G>T; NP_631941.1:p.Gly88Val
© CAGS 2024. All rights reserved.