QuickView for NPC2 (gene)

Gene Symbol:

NPC2 Homo sapiens

Full name:

NPC intracellular cholesterol transporter 2

Synonyms:

EDDM1, HE1, epididymal secretory protein E1, Niemann-Pick disease type C2 protein, epididymal protein 1, human epididymis-specific protein 1, tissue-specific secretory protein

Genomic Location:

Chr 14: 74016396-74029837

Description:

This gene encodes a protein containing a lipid recognition domain. The encoded protein may function in regulating the transport of cholesterol through the late endosomal/lysosomal system. Mutations in this gene have been associated with Niemann-Pick disease, type C2 and frontal lobe atrophy.

This gene encodes a protein containing a lipid recognition domain. The encoded protein may function in regulating the transport of cholesterol through the late endosomal/lysosomal system. Mutations in this gene have been associated with Niemann-Pick disease, type C2 and frontal lobe atrophy.

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Orthologs:

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

External Links:

Entrez Gene

Transcription Factor
Binding Sites:

AP3_Q6 ,  TATAAA_TATA_01 ,  LFA1_Q6 ,  GGGCGGR_SP1_Q6 ,  CTTTGT_LEF1_Q2 ,  AACTTT_UNKNOWN

Cytogenetic Map:

14q24.3

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