GALNT17 - polypeptide N-acetylgalactosaminyltransferase 17 Gene

Homo sapiens

Also known as GALNT16; GALNT20; GALNTL3; WBSCR17; GALNACT17; GalNAc-T17; GalNAc-T19; GalNAc-T5L

Gene ID: 64409 | Gene type: protein coding

About GALNT17

Cytogenetic location: 7q11.22 Genomic coordinates (GRCh38): 7:71,132,144-71,713,599 (from NCBI)

This gene has 5 transcripts (splice variants), 249 orthologues and 19 paralogues. Biased expression in brain (RPKM 15.1), ovary (RPKM 6.4) and 12 other tissues.

Summary

This gene encodes an N-acetylgalactosaminyltransferase. This gene is located centromeric to the common deleted region in Williams-Beuren syndrome (WBS), a multisystem developmental disorder caused by the deletion of contiguous genes at 7q11.23. This protein may play a role in membrane trafficking. [provided by RefSeq, Jan 2013]

GALNT17 Products(1)

mRNA	Protein	Name
NM_022479.3	NP_071924.1	polypeptide N-acetylgalactosaminyltransferase 17

GALNT17 Protein Structure

Glycos_transf_2

Ricin_B_lectin

0
100
200
300
400
500
598 a.a.

Protein Preferred Names

Protein Names

polypeptide N-acetylgalactosaminyltransferase 17

UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferase-like 3

Related Diseases

Diseases

Alias

Williams-Beuren Syndrome

Williams Syndrome	WBS
Wms	Deletion 7q11.23
Monosomy 7q11.23	Chromosome 7q11.23 Deletion Syndrome, 1.5- To 1.8-Mb
Fanconi Schlesinger Syndrome	Beuren Syndrome
Elfin Facies Syndrome	Elfin Facies With Hypercalcemia
Hypercalcemia-Supravalvar Aortic Stenosis	Ws

Intellectual Developmental Disorder, X-Linked 108

MRX108	X-Linked Intellectual Developmental Disorder 108
Mental Retardation, X-Linked 108	Mental Retardation, X-Linked, Type 108

Tumoral Calcinosis, Hyperphosphatemic, Familial, 1

Hyperphosphatemic Familial Tumoral Calcinosis	Hftc
Hyperostosis-Hyperphosphatemia Syndrome	Familial Hyperphosphatemic Tumoral Calcinosis/Hyperphosphatemic Hyperostosis Syndrome
Tumoral Calcinosis, Hyperphosphatemic, Familial	Phptc
Lipocalcinogranulomatosis	Morbus Teutschlaender
Hhs	Hyperostosis With Hyperphosphatemia
Cortical Hyperostosis With Hyperphosphatemia	Primary Hyperphosphatemic Tumoral Calcinosis
Familial Tumoral Calcinosis	HFTC1
Hypercalcemic Tumoral Calcinosis	Hyperphosphatemia Hyperostosis
Hyperphosphatemia Hyperostosis Syndrome	Hyperphosphatemia Tumoral Calcinosis
Tumoral Calcinosis	Calcinosis, Tumoral, With Hyperphosphatemia
Tumoral Calcinosis, Primary Hyperphosphatemic	Teutschlaender Disease, Familial
Familial Teutschlaender Disease	Tumoral Calcinosis With Hyperphosphatemia
Familial Tumoral Calcinosis/Hyperostosis-Hyperphosphatemia Syndrome	Ftc/Hhs
Familial Tumoral Calcinosis With Hyperphosphatemia	Teutschlaender Disease
Tumoral Calcinosis Primary Hyperphosphatemic	Calcinosis, Tumoral, Hyperphosphatemic, Familial

Autism Spectrum Disorder

Asd	Autism Spectrum Disorders
Autistic Continuum	Pervasive Developmental Disorder
Pervasive Development Disorder	Autistic Behavior
Autistic Disorder	Autistic
Autistic Disorder Of Childhood Onset	Infantile Autism
Childhood Autism	Kanner Syndrome
Pervasive Developmental Delay Nos	Pervasive Developmental Disorder, Not Otherwise Specified

Autism

Autistic Disorder	Autism Susceptibility 1
Childhood Autism	Autistic Disorder Of Childhood Onset
Infantile Autism	Kanner'S Syndrome
Autistic

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS05254	GALNT17 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	GALNT17	VGNC	VGNC:50029
Rattus norvegicus	GALNT17	RGD	RGD:1563452
Canis familiaris	GALNT17	VGNC	VGNC:41092
Macaca mulatta	GALNT17	VGNC	VGNC:72729
Felis catus	GALNT17	VGNC	VGNC:62449
Mus musculus	GALNT17	MGD	MGI:2137594

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