2. Gene
  3. Mmadhc - methylmalonic aciduria (cobalamin deficiency) cblD type, with homocystinuria Gene

Mmadhc - methylmalonic aciduria (cobalamin deficiency) cblD type, with homocystinuria Gene

  • Gene
  • Protein
  • Agent
  • Ortholog
Mus musculus

Also known as CblD; 2010311D03Rik

Gene ID: 109129 | Gene type: protein coding

About Mmadhc

Summary

Predicted to be involved in cobalamin metabolic process. Predicted to be located in cytoplasm. Predicted to be active in mitochondrion. Is expressed in several structures, including embryo ectoderm; gut; head mesenchyme; mesonephros; and notochord. Human ortholog(s) of this gene implicated in methylmalonic aciduria and homocystinuria type cblD. Orthologous to human MMADHC (metabolism of cobalamin associated D). [provided by Alliance of Genome Resources, Apr 2022]

Mmadhc Products(4)

mRNA Protein Name
NM_001348198.1 NP_001335127.1 cobalamin trafficking protein CblD isoform 2
NM_001348199.1 NP_001335128.1 cobalamin trafficking protein CblD isoform 2
NM_001348200.1 NP_001335129.1 cobalamin trafficking protein CblD isoform 3
NM_133839.3 NP_598600.1 cobalamin trafficking protein CblD isoform 1
Protein Preferred Names Protein Names

cobalamin trafficking protein CblD

methylmalonic aciduria and homocystinuria type D homolog, mitochondrial

Related Agents

Pre-clinical Phase
Bioactive Molecules (1)
Cat. No. Product Name Effect
Purity Rare Diseases
HY-RS08510 MMADHC Human Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

Species Symbol Source ID
Homo sapiens Mmadhc NCBI NCBI:27249