VitiVar - Compendium of genes and variants associated with vitiligo
premelanosome protein (PMEL)
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View gene PMEL
General information
Gene symbol
PMEL
Gene name
premelanosome protein
Chromosome
12
Chromosomal band
q13-q14
Gene Alias
Imprinted
Unknown
Genomic reference
NG_028086.1
Transcript reference
NM_006928.4
Study Type
Expression
Expression Status[Source: Literature]
Associated with DOWNREGULATION in Vitiligo
Yu et al.(2012)
Expression Summary[Source: Literature]
Sample : SKIN; BLOOD and SKIN || Population : "EAST ASIANS,SOUTH ASIANS,CAUCASIANS;" || Gene name used in study : PMEL
Total number of public variants reported
0
Unique public DNA variants reported
0
Individuals with public variants
0
Hidden variants
0
Curators (1)
IGIB
Date created
September 03, 2015
Date last updated
September 03, 2015
Version
PMEL:150903
Links to other resources
Gene Expression Meta-Analysis
http://vitivar.igib.res.in/gestatus.php?id=PMEL
HGNC
10880
Entrez Gene
6490
PubMed articles
PMEL
OMIM - Gene
155550
Active transcripts
Legend
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ID
Chr
Name
NCBI ID
NCBI Protein ID
Variants
00387
12
transcript variant 3
NM_006928.4
NP_008859.1
0
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