QuickView for HNPP (gene)

Gene Symbol:

PMP22 Homo sapiens

Full name:

peripheral myelin protein 22

Synonyms:

CIDP, CMT1A, CMT1E, DSS, GAS-3, GAS3, HMSNIA, HNPP, Sp110, peripheral myelin protein 22, growth arrest-specific protein 3, peripheral myelin protein 22 kDa

Genomic Location:

Chr 17: 15073821-15109369

Description:

This gene encodes an integral membrane protein that is a major component of myelin in the peripheral nervous system. Studies suggest two alternately used promoters drive tissue-specific expression. Various mutations of this gene are causes of Charcot-Marie-Tooth disease Type IA, Dejerine-Sottas syndrome, and hereditary neuropathy with liability to ...

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This gene encodes an integral membrane protein that is a major component of myelin in the peripheral nervous system. Studies suggest two alternately used promoters drive tissue-specific expression. Various mutations of this gene are causes of Charcot-Marie-Tooth disease Type IA, Dejerine-Sottas syndrome, and hereditary neuropathy with liability to pressure palsies. Alternative splicing results in multiple transcript variants.

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Orthologs:

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

External Links:

Entrez Gene

Transcription Factor
Binding Sites:

TGGAAA_NFAT_Q4_01 ,  CTTGTAT_MIR381 ,  ACTGTAG_MIR139 ,  GTGTTGA_MIR505 ,  TGANTCA_AP1_C ,  TTANTCA_UNKNOWN ,  ZIC1_01 ,  TTCNRGNNNNTTC_HSF_Q6 ,  VDR_Q6 ,  ATGTACA_MIR493 ,  WHN_B ,  HEB_Q6 ,  CACCCBINDINGFACTOR_Q6 ,  GGGYGTGNY_UNKNOWN ,  CAGGTG_E12_Q6 ,  AR_01 ,  ACCAAAG_MIR9 ,  CTTTAAR_UNKNOWN ,  OCT1_06 ,  PTF1BETA_Q6 ,  YGCGYRCGC_UNKNOWN ,  IK2_01 ,  MSX1_01 ,  CTGYNNCTYTAA_UNKNOWN ,  CAGCTG_AP4_Q5 ,  TGGTGCT_MIR29A_MIR29B_MIR29C ,  ER_Q6 ,  PAX2_02 ,  CP2_01 ,  GGGTGGRR_PAX4_03 ,  CTCCAAG_MIR432

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miRNA binding sites
(Source: TargetScan):

Predicted Gene Targets for miR-139 ,  Predicted Gene Targets for miR-145 ,  Predicted Gene Targets for miR-199 ,  Predicted Gene Targets for miR-381 ,  Predicted Gene Targets for miR-9 ,  Predicted Gene Targets for miR-29 ,  Predicted Gene Targets for miR-493-5p ,  Predicted Gene Targets for miR-505

Cytogenetic Map:

17p12

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