Hs04513152_cn

• Gene Symbol: GLA
• Assay Reference Genome Location: Chr.X:101405331 on build GRCh38
• Cytoband: Xq22.1

Target Gene Details

• Entrez Gene ID: 2717
• Gene Name: galactosidase alpha
• Gene Aliases: GALA
• Location: Chr.X:101397791-101408013 on Build GRCh38
• Assay Gene Location: Within Intron 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
GLA	NM_000169.2			NP_000160.1
	AK222627.1			BAD96347.1
	AK291095.1
	AK297148.1
	BC002689.2			AAH02689.1
	BT006864.1			AAP35510.1
	D00039.1			BAA34059.1
	X05790.1			CAA29232.1
	X16889.1

Target Gene Details

• Entrez Gene ID: 100529097
• Gene Name: RPL36A-HNRNPH2 readthrough
• Gene Aliases: -
• Location: Chr.X:101390890-101414140 on Build GRCh38
• Assay Gene Location: Within Intron 4

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
RPL36A-HNRNPH2	NM_001199973.1			NP_001186902.1
	NM_001199974.1			NP_001186903.1
	DA530036.1
	DA998453.1

More Information

• Set Membership: Intragenic, Intronic, Non-exonic, non-DGV Variation

Panther Classification:

Molecular Function -

galactosidase, ribosomal protein

Gene Ontology Categories:

Process(es)

glycosphingolipid metabolic process
oligosaccharide metabolic process
negative regulation of nitric oxide biosynthetic process
glycosylceramide catabolic process
glycosphingolipid catabolic process
negative regulation of nitric-oxide synthase activity

Function(s)

catalytic activity
alpha-galactosidase activity
receptor binding
protein binding
hydrolase activity
galactoside binding
protein homodimerization activity
raffinose alpha-galactosidase activity