MMADHC FISH Probe

This gene encodes a mitochondrial protein that is involved in an early step of vitamin B12 metabolism. Vitamin B12 (cobalamin) is essential for normal development and survival in humans. Mutations in this gene cause methylmalonic aciduria and homocystinuria type cblD (MMADHC), a disorder of cobalamin metabolism that is characterized by decreased levels of the coenzymes adenosylcobalamin and methylcobalamin. Pseudogenes have been identified on chromosomes 11 and X.[provided by RefSeq, Nov 2008]


Gene Details
SKU Test Kits Buffer Dye Color Order Now
MMADHC-20-RE 20 (40 μL) 200 μL color Request Pricing
MMADHC-20-OR 20 (40 μL) 200 μL color Request Pricing
MMADHC-20-GO 20 (40 μL) 200 μL color Request Pricing
MMADHC-20-GR 20 (40 μL) 200 μL color Request Pricing
MMADHC-20-AQ 20 (40 μL) 200 μL color Request Pricing

Gene Summary

This gene encodes a mitochondrial protein that is involved in an early step of vitamin B12 metabolism. Vitamin B12 (cobalamin) is essential for normal development and survival in humans. Mutations in this gene cause methylmalonic aciduria and homocystinuria type cblD (MMADHC), a disorder of cobalamin metabolism that is characterized by decreased levels of the coenzymes adenosylcobalamin and methylcobalamin. Pseudogenes have been identified on chromosomes 11 and X.[provided by RefSeq, Nov 2008]

Gene Details

Gene Symbol : MMADHC

Gene Name : Methylmalonic aciduria and homocystinuria, cblD type

Chromosome : CHR 2: 149,587,815-149,569,632

Locus : 2q23.2

Alt. Genes : KIF20A

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