LRMDA (Leucine-Rich Melanocyte Differentiation Associated) Gene
Genetic insights into LRMDA: role in melanocyte differentiation, oculocutaneous albinism, and pigmentation pathways
Gene Information Card
| Symbol | LRMDA |
|---|---|
| Full Name | Leucine-rich melanocyte differentiation associated |
| Gene Type | Protein coding |
| Chromosomal Location | 10q22.3 |
| NCBI Gene ID | 83938 ncbi.nlm.nih.gov/gene/83938 |
| Ensembl ID | ENSG00000120068 |
| UniProt ID | Q8N6Y0 |
| OMIM ID | 614537 |
| HGNC ID | 28541 |
| Aliases | C10orf11, bA157L14.2 |
Description
The LRMDA gene (leucine-rich melanocyte differentiation associated) encodes a protein involved in melanocyte differentiation and pigmentation. It is located on chromosome 10q22.3 and is expressed in various tissues, with notable expression in skin and retinal pigment epithelium. Mutations in LRMDA are associated with oculocutaneous albinism type 7 (OCA7), an autosomal recessive disorder characterized by reduced pigmentation in the eyes, skin, and hair. The protein contains leucine-rich repeats (LRRs) and is thought to play a role in melanosome biogenesis or melanocyte development. LRMDA is also known as C10orf11.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Oculocutaneous albinism type 7 (OCA7) | Loss-of-function mutations in LRMDA impair melanocyte differentiation, leading to reduced melanin production. | ClinVar, OMIM (614537) |
| Ocular albinism with sensorineural deafness (rare) | Potential involvement in melanocyte function in the inner ear, though evidence is limited. | OMIM (300650) - note: not directly linked to LRMDA; caution required. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Skin | 12.3 | Medium |
| Retinal pigment epithelium | 8.5 | Low |
| Testis | 5.2 | Low |
| Brain | 3.1 | Low |
| Lung | 2.0 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Melanocytes | 15.0 | High expression |
| Keratinocytes | 4.5 | Low expression |
| HeLa | 2.0 | Low expression |
| A549 | 1.0 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.328C>T (p.Arg110*) | Nonsense | Rare | Loss of function; associated with OCA7 |
| c.1A>G (p.Met1?) | Start codon loss | Rare | Loss of function; associated with OCA7 |
| c.232delA (p.Ser78Alafs*23) | Frameshift | Rare | Loss of function; associated with OCA7 |
Mutation functional classification
Loss of Function (LOF)
Most LRMDA mutations are loss-of-function, leading to haploinsufficiency or complete loss of protein function, causing OCA7.
Gain of Function (GOF)
No gain-of-function mutations have been reported for LRMDA.
Dominant Negative (DN)
No dominant-negative effects have been described; OCA7 is inherited in an autosomal recessive manner.
View complete mutation data：
Gene Ontology (GO)
| • melanocyte differentiation | • pigmentation |
| • melanosome organization | • protein binding |
Pathways
• Melanogenesis
• Tyrosine metabolism
Protein Summary
The LRMDA protein is a leucine-rich repeat (LRR)-containing protein of unknown precise function. It is predicted to be involved in protein-protein interactions and may play a role in melanocyte differentiation. The protein is localized to the cytoplasm and possibly to melanosomes. Its expression is enriched in melanocytes and retinal pigment epithelium. Loss of function leads to oculocutaneous albinism type 7.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| LRMDA Knockout HEK293 Cell Line | EDJ-KQ9938 | Human | 83938 | Details Get a Quote |
| LRMDA Knockout HCT 116 Cell Line | EDJ-KQ35646 | Human | 83938 | Details Get a Quote |
| LRMDA Knockout A-549 Cell Line | EDJ-KQ36839 | Human | 83938 | Details Get a Quote |
| LRMDA Knockout HeLa Cell Line | EDJ-KQ36840 | Human | 83938 | Details Get a Quote |
