QuickView for TMEM165 (gene)

Gene Symbol:

TMEM165 Homo sapiens

Full name:

transmembrane protein 165

Synonyms:

CDG2K, FT27, GDT1, TMPT27, TPARL, transmembrane protein 165, TPA regulated locus, transmembrane protein PT27, transmembrane protein TPARL

Genomic Location:

Chr 4: 55957114-55987099

Description:

This gene encodes a predicted transmembrane protein with a perinuclear Golgi-like distribution in fibroblasts. Mutations in this gene are associated with the autosomal recessive disorder congenital disorder of glycosylation, type IIk. Knockdown of this gene's expression causes decreased sialylation in HEK cells and suggests this gene plays a role i...

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This gene encodes a predicted transmembrane protein with a perinuclear Golgi-like distribution in fibroblasts. Mutations in this gene are associated with the autosomal recessive disorder congenital disorder of glycosylation, type IIk. Knockdown of this gene's expression causes decreased sialylation in HEK cells and suggests this gene plays a role in terminal Golgi glycosylation. Alternative splicing results in multiple transcript variants.

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Orthologs:

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

External Links:

Entrez Gene

Transcription Factor
Binding Sites:

CGTSACG_PAX3_B ,  MYOD_Q6_01 ,  YRTCANNRCGC_UNKNOWN ,  TTTGTAG_MIR520D ,  E2A_Q2 ,  GTGACGY_E4F1_Q6

Cytogenetic Map:

4q12

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