TMEM165 transmembrane protein 165

Gene ID: 55858, updated on 3-Nov-2024
Gene type: protein coding
Also known as: FT27; GDT1; CDG2K; TPARL; TMPT27; SLC64A1

Summary

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. [provided by RefSeq, Jul 2012]

Associated conditions

See all available tests in GTR for this gene

Description	Tests
Congenital disorder of glycosylation MedGen: C0282577GeneReviews: Congenital Disorders of N-Linked Glycosylation and Multiple Pathway Overview	See labs
TMEM165-congenital disorder of glycosylation MedGen: C3553571OMIM: 614727GeneReviews: Congenital Disorders of N-Linked Glycosylation and Multiple Pathway Overview	See labs

Genomic context

Location:: 4q12

Sequence:: Chromosome: 4; NC_000004.12 (55395957..55453397)

Total number of exons:: 9

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Variation

Resource	Links for this gene
ClinVar	Variants reported to ClinVar
dbVar	Studies and variants
SNP	Variation Viewer for TMEM165 variants
Genome viewer	Explore NCBI-annotated and select non-NCBI annotated genome assemblies

Links

ClinVar
Related medical variations
dbVar
Link from Gene to dbVar
MedGen
Related information in MedGen
OMIM
Link to related OMIM entry
PubMed (OMIM)
Gene links to PubMed derived from omim_pubmed_cited links
RefSeq RNAs
Link to Nucleotide RefSeq RNAs
RefSeqGene
Link to Nucleotide RefSeqGenes
TMEM165 database
Variation Viewer
Related Variants

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