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

Also Known as CblD; 2010311D03Rik

Species: Mus musculus

Gene Type: protein coding
Gene ID: 109129

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

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