QuickView for Myelin Proteolipid Protein (gene)

Gene Symbol:

PLP1 Homo sapiens

Full name:

proteolipid protein 1

Synonyms:

GPM6C, HLD1, MMPL, PLP, PLP/DM20, PMD, SPG2, myelin proteolipid protein, lipophilin, major myelin proteolipid protein

Genomic Location:

Chr X: 102918410-102934204

Description:

This gene encodes a transmembrane proteolipid protein that is the predominant component of myelin. The encoded protein may play a role in the compaction, stabilization, and maintenance of myelin sheaths, as well as in oligodendrocyte development and axonal survival. Mutations in this gene cause Pelizaeus-Merzbacher disease and spastic paraplegia ty...

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This gene encodes a transmembrane proteolipid protein that is the predominant component of myelin. The encoded protein may play a role in the compaction, stabilization, and maintenance of myelin sheaths, as well as in oligodendrocyte development and axonal survival. Mutations in this gene cause Pelizaeus-Merzbacher disease and spastic paraplegia type 2. Alternatively splicing results in multiple transcript variants, including the DM20 splice variant.

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Orthologs:

Mus musculus ,  Rattus norvegicus ,  Macaca mulatta ,  Bos taurus ,  Pan troglodytes ,  Canis lupus familiaris ,  Danio rerio

External Links:

Entrez Gene

Transcription Factor
Binding Sites:

TFIIA_Q6 ,  SYATTGTG_UNKNOWN ,  GCAAGGA_MIR502 ,  CIZ_01 ,  TACTTGA_MIR26A_MIR26B ,  ACCAATC_MIR509 ,  TCTGATA_MIR361 ,  ZID_01 ,  ATTCTTT_MIR186 ,  IRF_Q6 ,  CTTTAAR_UNKNOWN ,  TGCCAAR_NF1_Q6 ,  TTGTTT_FOXO4_01 ,  CAAGGAT_MIR362 ,  CTGYNNCTYTAA_UNKNOWN ,  TGACAGNY_MEIS1_01 ,  ICSBP_Q6 ,  CTTTGT_LEF1_Q2 ,  AAAGGAT_MIR501 ,  CAGCTG_AP4_Q5 ,  TGGTGCT_MIR29A_MIR29B_MIR29C ,  P300_01 ,  AACTTT_UNKNOWN ,  NFKB_C ,  CCACACA_MIR147

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miRNA binding sites
(Source: TargetScan):

Predicted Gene Targets for miR-186 ,  Predicted Gene Targets for miR-26 ,  Predicted Gene Targets for miR-361 ,  Predicted Gene Targets for miR-140 ,  Predicted Gene Targets for miR-29 ,  Predicted Gene Targets for miR-362 ,  Predicted Gene Targets for miR-543

Cytogenetic Map:

Xq22.2

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