PMEL
Description
The PMEL (premelanosome protein) is a protein-coding gene located on chromosome 12.
PMEL may refer to:
PMEL forms physiological amyloids that play a key role in melanosome development and pigmentation. During the transition from stage I to II premelanosomes, processed amyloidogenic fragments assemble into parallel fibrillar sheets, elongating the vesicle into a striated ellipsoidal shape. In pigmented stages III and IV, the amyloid matrix serves as a platform for eumelanin precursors to accumulate at high concentrations, facilitating pigment formation. PMEL may also protect against pigmentation-related toxicity by sequestering toxic intermediates in the eumelanin biosynthesis pathway.
PMEL is also known as D12S53E, HMB-45, HMB45, ME20, ME20-M, ME20M, P1, P100, PMEL17, SI, SIL, SILV, gp100.
Associated Diseases
- Griscelli syndrome type 3
- uncombable hair syndrome
- microcephaly-albinism-digital anomalies syndrome
- retinitis pigmentosa
- oculocutaneous albinism type 3
- oculocutaneous albinism type 4
- ringed hair disease
- Tietz syndrome
- pili bifurcati
- ermine phenotype
