Hs01587628_cn

• Gene Symbol: MMACHC
• Assay Reference Genome Location: Chr.1:45511124 on build GRCh38
• Cytoband: 1p34.1

Target Gene Details

• Entrez Gene ID: 25974
• Gene Name: methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria
• Gene Aliases: cblC
• Location: Chr.1:45500184-45511266 on Build GRCh38
• Assay Gene Location: Within Exon 4

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
MMACHC	NM_015506.2			NP_056321.2
	XM_005270724.4	3	2666	XP_005270781.1
	XM_011541204.2	4	2816	XP_011539506.1
	AK098537.1
	BU632364.1

Target Gene Details

• Entrez Gene ID: 5052
• Gene Name: peroxiredoxin 1
• Gene Aliases: MSP23, NKEF-A, NKEFA, PAG, PAGA, PAGB, PRX1, PRXI, TDPX2
• Location: Chr.1:45511035-45522890 on Build GRCh38
• Assay Gene Location: Within Exon 7

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
PRDX1	NM_001202431.1	6	929	NP_001189360.1
	NM_002574.3	6	1146	NP_002565.1
	NM_181696.2	6	1120	NP_859047.1
	NM_181697.2	6	926	NP_859048.1
	AI912389.1	1	118
	AK131049.1	6	874
	BC007063.1	6	872	AAH07063.1
	BC021683.1	6	878	AAH21683.1
	X67951.1	6	865	CAA48137.1

Target Copy Number Variation Details

• DGV Version: Release date: 2016-05-15, GRCh GRCh38

Target Variation	Location	CNV Subtype	Genes
esv3893512	Chr.1:45476180 - 46068871 on Build GRCh38	Gain	RPS15AP10 CCDC17 GPBP1L1 MAST2 AKR1A1 MMACHC TESK2 IPP PRDX1 NASP PIK3R3 CCDC163P TMEM69
nsv829726	Chr.1:45431909 - 45637514 on Build GRCh38	Loss	PRDX1 CCDC17 NASP GPBP1L1 AKR1A1 MMACHC TESK2 CCDC163P

More Information

• Set Membership: Intragenic, Exonic, DGV Variation

Panther Classification:

Molecular Function -

peroxidase

Gene Ontology Categories:

Process(es)

cobalamin metabolic process
cobalamin biosynthetic process
oxidation-reduction process
response to reactive oxygen species
skeletal system development
retina homeostasis
cell proliferation
removal of superoxide radicals
regulation of stress-activated MAPK cascade
erythrocyte homeostasis
natural killer cell mediated cytotoxicity
regulation of NF-kappaB import into nucleus
hydrogen peroxide catabolic process
cell redox homeostasis
cell-cell adhesion

Function(s)

protein binding
oxidoreductase activity
cobalamin binding
cyanocobalamin reductase (cyanide-eliminating) activity
peroxidase activity
thioredoxin peroxidase activity
identical protein binding
poly(A) RNA binding
cadherin binding involved in cell-cell adhesion